Friday, August 31, 2012

Liver cancer risk lowered by vitamin E

Vitamin E can lower the chance of liver cancerVitamin E can lower the chance of liver cancer
Vitamin E can lower the risk of liver cancer according to a study recently published in the Journal of the National Cancer Institute.

The study was conducted in China, where both hepatitis B and liver cancer is rampant.

"Overall, the take home message is that high intake of vitamin E either from diet or supplements was related to lower risk of liver cancer in middle-aged or older people from China," reported Xiao Ou Shu, M.D., Ph.D., a professor of Medicine at the Vanderbilt Epidemiology Center.

"We found a clear, inverse dose-response relation between vitamin E intake and liver cancer risk," the authors of the study concluded.

Other vitamins tested, such as vitamin C, did not lower the risk of liver cancers.

Both those with diets high in vitamin E, as well as those who took vitamin E supplements appeared to benefit.

Vitamin E has antioxidant qualities which may prevent damage to human DNA.

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Breast cancer survivors may face second threat: heart failure

Women who have survived breast cancer may have to fight another killer down the road — heart failure, researchers report.

They found a much higher rate of heart failure among breast cancer survivors than has previously been reported, and said their findings likely reflect the real-world risks that women have. The 12,000 women studied for the report had a 20 percent risk of developing heart failure over just five years if they got a common chemotherapy regimen, compared to just 3.5 percent of breast cancer patients who did not get chemo.

“I think these drugs are critical to improving breast cancer survival,” said Erin Aiello Bowles of the Seattle-based Group Health Research Institute, who led the study published in the Journal of the National Cancer Institute. “But these drugs are toxic. They are meant to target disease but they can often damage other parts of the body.”

Clinical trials of breast cancer patients — designed to discover whether drugs fight disease and to show how safe they are — have shown that the drugs can damage the heart and cause higher rates of heart failure. They generally demonstrate about a 4 percent increase in heart failure over three to five years for women getting chemo. But clinical trials usually involve a select group of patients who are healthy in other ways.

Bowles said her team set out to look at real-world patients of all ages and with a range of health conditions on top of their breast cancer. They went through the medical records of women at eight health systems who were treated between 1999 and 2007 with two very common cancer drugs: a group of drugs called anthracyclines, such as adriamycin, and a targeted antibody drug called Herceptin or trastuzumab.

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Each drug raised the risk on its own, but the combination greatly raised heart failure rates.

“It is important to note that these rates do vary by age,” Bowles said in a telephone interview.  ”They are much lower in the younger women.” More than 40 percent of the women over the age of 75 who got a combination of an anthracycline and Herceptin also developed heart failure within five years. Just 13.7 percent of the breast cancer patients that age who did not get chemo developed heart failure.

The study highlights a growing problem. The American Cancer Society estimates there are 12 million cancer survivors alive in the United States now. As many cancer patients survive their disease and lead ever-longer lives, they find they must fight second battles against the long-term effects of the treatments that saved their lives. Even so-called targeted therapies, which were designed to better target tumor cells while leaving healthy tissue alone, have been shown to cause long-lasting damage.

And as they leave the care of a specialized oncologist and return to day-to-day care, they may not know they're at special risk of other conditions – and their primary care doctors may not be aware, either. The American Society of Clinical Oncology has been warning about the problem for years, and released research at its annual meeting last June showing that 94 percent of primary care doctors didn’t know about the potential long-term effects of drugs commonly used to treat breast and prostate cancer.

Breast cancer is the leading cancer killer of U.S. women, after lung cancer. It is diagnosed in more than 220,000 women a year, according to the American Cancer Society, and will kill nearly 40,000 this year. About 20 percent of cases are a kind called HER-2 positive, and Herceptin was formulated to especially target this kind. It's very effective and has saved thousands of lives, but it was known to also damage the heart, although doctors don't understand just how.

Heart failure is also very common. The National Heart, Lung and Blood Institute estimates 4.8 million Americans have congestive heart failure, which is a chronic condition in which the heart doesn't pump blood effectively. Half of patients with heart failure die within five years, and 400,000 people get newly diagnosed every year.

So what can women do if they've had chemo for breast cancer and want to watch their hearts?

Cardiologist Dr. Larry Allen of the University of Colorado in Denver, who also worked on the study, said they first of all need to be educated about what drugs they have taken and what the side-effects are.

"Second, patients should ask about what heart tests may be indicated before, during, and after treatment," Allen said in a statement. These may include tests of how well the heart is pumping blood – tests that most women won't get during a routine physical or well-woman visit.

"Third, in addition to allowing doctors to monitor for heart problems, patients can monitor themselves for worsening heart function by understanding how heart problems may present — including shortness of breath especially when lying flat, leg swelling, palpitations/heart fluttering, and exercise intolerance (these symptoms can represent non-heart disease too, but generally warrant additional evaluation)," Allen added.

"Unfortunately, it is unknown if medications that are typically used to treat heart failure (such as beta-blockers and ACE inhibitors) might protect against heart damage from certain chemotherapy."

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FDA Approves Prostate Cancer Drug

The new drug, which will be called Xtandi, was developed by Medivation, a small San Francisco pharmaceutical company, in partnership with the Japanese firm Astellas Pharma.

In clinical trials, men who received the drug, which was previously known as MDV3100, lived a median of 18.4 months, nearly five months longer than the median of 13.6 months for those who received a placebo.

While the approval was not a surprise, its timing was. The F.D.A. approved the drug after only a three-month review, three months ahead of the late November deadline. This is fairly rare, although a number of other cancer drugs have been approved at least a month ahead of deadline in recent years.

"The need for additional treatment options for advanced prostate cancer continues to be important," Dr. Richard Pazdur, the director of the agency's cancer drug office, said in a statement.

Xtandi is one of several new prostate cancer drugs that have come to market in the last two years after a long fallow period. While the new drugs have been good for men with the disease, they could add billions of dollars to the nation's medical bills.

The price of Xtandi was not immediately available, but Geoffrey Porges, an analyst at Sanford C. Bernstein Company, estimated it would be about $6,000 a month.

Before 2004, the only drug shown to prolong the survival of men with advanced prostate cancer was the chemotherapy drug docetaxel. Now there are four others on the market — Sanofi's Jevtana, Dendreon's Provenge, Johnson Johnson's Zytiga and Xtandi, which is known generically as enzalutamide.

Xtandi is expected to compete most directly with Zytiga. Both are pills, work in similar ways and are approved for the same patient population — men whose cancer has spread elsewhere in the body or recurred despite treatment aimed at suppressing production of the hormone testosterone, which fuels prostate cancer growth.

Both drugs are approved for men who have already tried docetaxel, though both Medivation and Johnson Johnson hope to eventually win approval for their drugs to be used before docetaxel, a potentially much larger market. Many patients would prefer to use the pills before having to try chemotherapy.

Zytiga prolonged median survival by 3.9 months, as initially reported, though Johnson Johnson later updated that figure to 4.6 months. Zytiga, which was approved in April 2011, had worldwide sales of $432 million in the first six months of this year.

Xtandi and Zytiga have not been compared head-to-head in a clinical trial. But some analysts say Xtandi would have an edge because it does not have to be given with a steroid to minimize side effects, as Zytiga does.

Xtandi has its own side effect, however, with about 1 percent of men taking it in the clinical trial suffering seizures.

There are expected to be about 241,000 new cases of prostate cancer this year in the United States and about 28,000 deaths.

Many men are treated with drugs such as Lupron that, in effect, induce a chemical castration, suppressing production of testosterone. But the cancers can eventually become resistant to castration therapy.

Xtandi works by blocking the action of testosterone, rather than by turning off its production.

It is the first product to reach the market for Medivation. It previously developed an old Russian antihistamine as a potential treatment for Alzheimer's disease, signing a big partnership with Pfizer. But that drug failed in late-stage clinical trials.

Medivation shares were up 5 percent to $102.36 when trading resumed late Friday following a suspension because of the news. The shares have roughly quintupled since Medivation announced the results of its clinical trial last November.



Dan Mac Alpine: This news was a real dope slap

Oh, dopey me.

I admit it. Lance Armstrong, recently stripped of his seven straight Tour de France titles and an Olympic bronze medal for doping, was a hero. Despite his unprecedented domination of a sport dominated by dopers and cheaters, I believed in Lance's doping denials. Or more accurately, I wanted to believe.

Why?

Because I am a testicular cancer survivor. Some 20 years ago I went into my doctor's office for a checkup. I'd completely forgotten about the excruciatingly tender lump in my left testicle. He found it quickly enough in a standard physical exam, bringing me to my knees in a stab of white-light pain. He was on the phone to the urologist next door before I could buckle my belt. And the urologist was on the phone to the hospital scheduling surgery for the next day before I finished dressing, scarcely an hour after my initial exam.

"No, no. You don't understand. This has to be done right away," I heard the urologist saying through the open door that separated his office from his examining room.

And along came Lance, fellow testicular cancer survivor, giving a face to a disease I'd never known existed before I had it.

It wasn't just Lance's athletic ability, his fierce competitive spirit or his courage and skill as a cyclist that hooked me. Here was a guy willing to come forward and be a poster boy for a then largely unspoken disease. A very curable disease if caught in time — the National Cancer Institute says the five-year survival rate for localized testicular cancer is now 99 percent, 96 percent for regional cases and 72 percent for distant cases. Lance was willing to expose himself personally to warn others and save lives. His Livestrong Foundation — think the yellow wristbands — has raised some $500 million for cancer research.

I believed Lance was clean not because he'd passed hundreds of drug tests, although that helped, but because of one thing he said, and I paraphrase: "I survived cancer. Why would I put anything in my body that would put me at that kind of risk again?"

Having spent hours vomiting following treatments; having been told my oldest daughter, 5 at the time, spent the day I went into surgery at her daycare with a teddy bear, pretending to cut him open and stitch him back up and make him "better"; having pondered what I might say in videos I would leave behind to my two girls in case I wasn't there to watch them grow up — a tape for the onset of their menses, a tape for their proms, a tape for their weddings, a tape for high school graduation, one for college graduation, a tape for the birth of their first children,  I couldn't believe anyone would risk a repeat of cancer after having been given the gift of survival.

So I watched as much of Lance's Tour victories as I could. I remember him being run off the road coming down a mountain, heading straight down, through the rough grass and joining up with the road as it switched back again. I remember him leaving Jan Ulrich gasping on a final climb so steep it goes beyond the category five-climb classification for the most difficult climbs in the Tour. I cheered. I stood up, my spine tingling as Lance pumped to yet another victory. Take that you snobby French people, you!

And Lance was doing it clean. Surely he wouldn't risk triggering some latent, hidden cancer cell camping out in what was left of his lymph system by doping. Surely he wouldn't be so two-faced as to start a cancer foundation, all the while doping.

So I imagined myself pounding the Cul de Whatever on my own bike rides, just like Lance. "Oh, and Dan is making his move now! You can see the suffering on his face. His legs must be screaming! But he's simply crushing his nearest competition and likely ensuring yet another Tour victory!" On days I didn't feel like running, I asked myself, "What would Lance do?" I bought the yellow Livestrong wristbands. I gave one to my former boss to wear while she was undergoing breast cancer treatment.

And now? Now?

Lance still denies doping. Maybe he's telling the truth. But the facts don't stack that way. He's given up his court battle against the U.S. Anti-Doping Agency. The agency has close to a dozen former teammates ready to testify Lance doped. The doping agency says it has blood test markers from Lance consistent with doping.

I'd like to believe Lance. I want to believe Lance. But I can't believe Lance anymore. I can only be a dope for so long.

Dan Mac Alpine is editor of the Ipswich (Mass.) Chronicle and the Hamilton-Wenham (Mass.) Chronicle.



CyberKnife Cancer Institute of Chicago Is the First to Offer CyberKnife ...

/PRNewswire/ — CyberKnife Cancer Institute of Chicago, a program of Swedish Covenant Hospital, is the first and only center within the City of Chicago to offer the revolutionary CyberKnife stereotactic radiosurgery treatment. The 10,000 sq. ft. state-of-the-art facility is treating patients with cancers of the brain, spine, pancreas, prostate, kidney, liver and lung. The technology is also effective for certain nervous system conditions like trigeminal neuralgia and arteriovenous malformations. The center is supported throughout the Chicagoland area by 24 credentialed physicians as well as a partnership with Radiology Oncology, S.C., a division of Alpha Med Physicians Group.

(Logo:  http://photos.prnewswire.com/prnh/20120830/CG65933LOGO)

As a non-invasive alternative to surgery, CyberKnife Robotic Radiosurgery can effectively treat complex tumors located virtually anywhere in the body. These treatments offer a reduced the risk of complications, allow the treatment of recurrent tumors, and are comfortable procedures that can usually be completed in around an hour per treatment.

“We are thrilled to have CyberKnife technology in Chicago and conveniently on Chicago’s Magnificent Mile. It grants us the opportunity to treat patients with the most revolutionary tumor technology available for a higher level of patient care and ultimately treatment success,” says Dr. Adam Dickler, Medical Director of the CyberKnife Cancer Institute of Chicago.

To learn more about CyberKnife and locate a referring physician, visit www.ckcancerchicago.com.

About CyberKnife Cancer Institute of Chicago, a program of Swedish Covenant Hospital

CyberKnife Cancer Institute of Chicago is the only center within the city of Chicago to offer the revolutionary CyberKnife stereotactic radiosurgery system. The 10,000 sq. ft. state-of-the-art facility is supported by a diverse team of skilled radiation oncologists in partnership with Swedish Covenant Hospital. The CyberKnife Cancer Institute of Chicago is located in downtown Chicago, just steps from the Magnificent Mile and is easily accessible by public transportation and offers free underground parking for patients www.ckcancerchicago.com. CyberKnife® is a registered trademark of Accuray Incorporated and is used with permission.

Press contact: Leigh Ginther, lginther@schosp.org or 773-989-1685.

SOURCE CyberKnife Cancer Institute of Chicago

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Indiana Cancer Group Data Breach Affects About 55000 People

Cancer Care Group, an Indianapolis oncology practice that treats and manages patients using radiation therapy, has reported a data breach affecting approximately 55,000 individuals, including patients and employees.

Operating in 21 locations within Indiana, Cancer Care Group provides treatment, research, education and training in oncology.

On July 19 a laptop computer bag was stolen from an employee’s locked vehicle, the oncology organization reported. The physician group announced the breach on Aug. 28.

A spokesman for Cancer Care Group declined to comment beyond information in the company’s news release.

Data stored on server backup media in the laptop computer bag included patients’ names, addresses, Social Security numbers, dates of birth, medical record numbers and insurance information.

The backup device also contained data on Cancer Care Group employees, such as dates of birth, Social Security numbers, beneficiary names and employment data.

The affected data was for billing purposes only, according to the Cancer Care Group.

“There is no evidence to believe that the backup media were the target of the theft or that any of the information on the media has been accessed or used for fraudulent purposes,” the organization reported in a statement on its Website. “Cancer Care Group assures its patients and employees that it took immediate steps to investigate and attempt to recover the backup media.”

The organization has filed a police report and notified patients and employees.

Steps the Cancer Care Group will take to secure health care data in the future include encrypting mobile storage devices, upgrading data storage equipment, and revising policies and procedures, the organization reported.

“Cancer Care Group deeply regrets that this occurred,” the group stated. “We are committed to excellent care and protecting the privacy of personal information.”

The organization has posted the toll-free number 866-264-1049 for further information on the breach.

Cancer Care Group’s incident is the fourth-largest health care breach this year, according to Healthcare IT News.

On April 18 Emory Healthcare in Atlanta reported the loss of 10 backup disks containing data on 315,000 surgical patients. The disks were unencrypted and stored in an unlocked cabinet.

On March 30, a hacker from Eastern Europe put about 280,000 Social Security numbers for Medicaid claims at risk by hacking a Utah Department of Technology Services server. That incident involved health data for Medicaid and Children’s Health Insurance Plan patients. In addition to those patients whose Social Security numbers were stolen, 500,000 others were affected in the Utah incident.

Recent health care data breaches highlight a need for more investment in security by health care organizations, according to Judy Hanover, research director at IDC Health Insights. Audits of security practices and vulnerabilities are also necessary, she said.

Under the Health Information Technology for Economic and Clinical Health (HITECH) Act Breach Notification Rule, incidents involving 500 or more people must be reported to the U.S. Department of Health and Human Services and to the news media. The 2009 HITECH law strengthened breach-reporting measures under the Health Insurance Portability and Accountability Act (HIPAA), which governs the release of protected health information.





Cancer Risk Triples in Kids with Arthritis

By Nancy Walsh, Staff Writer, MedPage Today

Children with juvenile idiopathic arthritis (JIA) had a nearly threefold increased risk for malignancy, even if they had never been treated with biologic therapies, researchers found.

The overall incidence rate of cancer among children with JIA who had received only conventional therapy was 67 cases per 100,000 person-years (95% CI 1.3 to 132.5), while the rate among healthy children was 23.2 cases per 100,000 person-years (95% CI 12.2 to 34.2), according to Beth Nordstrom, PhD, of United BioSource Corporation in Lexington, Mass., and colleagues.

Accordingly, the hazard ratio for cancer among biologic-naive children was 2.81 (95% CI 0.94 to 8.34), the researchers reported in the September Arthritis Care Research.

Adults with rheumatoid arthritis are at increased risk for certain cancers, particularly lymphoma, which is thought to relate to the underlying immune system dysregulation and high levels of systemic inflammation.

In addition, treatment with tumor necrosis factor (TNF) inhibitors may contribute to the risk, because of the role TNF itself plays in tumor surveillance.

Since children with JIA began receiving treatment with the biologic agents, questions have arisen regarding cancer risks, adding to uncertainty as to whether the disease itself in younger patients also is associated with malignancy.

In an attempt to sort through the possible risks of the disease and its treatment in young patients, Nordstrom and colleagues conducted a case-control study that included 3,605 patients diagnosed with JIA before age 16 and 37,689 controls from a large administrative database.

Mean age was 11, and the majority were female.

During 5,974 person-years of follow-up, malignancies other than nonmelanoma skin cancer and carcinoma in situ were diagnosed in 0.1% of the JIA group.

In contrast, during 73,395 person-years of follow-up, 0.05% of controls were diagnosed with cancer.

The standardized incidence rates for both case and control groups were higher than the standardized incidence rates in the Surveillance, Epidemiology, and End Results (SEER) database, though only among cases was the rate significantly higher (SIR 4.03, 95% CI 2.56 to 5.99).

Patients ages 12 to 17 were at decreased risk compared to patients age 18 and over (HR 0.18, 95% CI 0.05 to 0.68).

The total numbers of probable or highly probable cancers were small, with four among JIA cases and 17 among controls, so separate analyses could not be done for most individual types of malignancies.

However, the SIR for lymphoma was significantly higher at 14.81 (95% CI 7.62 to 25.67) in the JIA group, “suggesting that lymphoma may be among the primary drivers of any risk of cancer in JIA,” the researchers observed.

Two of the JIA patients had been treated with methotrexate, and calculation of their risk separately found an HR of 5.47 (95% CI 1.26 to 23.70, P0.05), which was significantly higher than for all JIA combined.

A possible explanation for this finding was that methotrexate was likely to have been given to children with more severe disease, although an earlier study examining cancer rates before methotrexate became available in the 1980s did not rule out the possibility that there may be a methotrexate-related increase in risk.

Nordstrom and colleagues acknowledged that their study was not designed to assess risks associated with methotrexate, but rather those from treatment with biologics, which generally are only used when methotrexate fails.

“Therefore, it is reasonable to assess the cancer risk in methotrexate-treated JIA patients as a baseline for understanding any excess risk conferred by an anti-TNF agent,” they argued.

Limitations of the study include its reliance on administrative claims data, a lack of information on race, and probable closer monitoring of children with JIA that could detect cancers more quickly.

And despite the large study population, the small numbers of JIA patients and malignancies overall do not permit definitive assumptions from being drawn about safety of TNF inhibitors in children.

“We propose that the interpretation of the risk of cancer in JIA patients treated with biologic agents should be made with consideration for the potential increased risk associated with JIA and conventional treatment,” Nordstrom and colleagues stated.

Several co-authors are employees of Pfizer. One co-author owns stock in Vanguard Healthcare, while another has stock in Pfizer, and a third holds stock in Wyeth.

Primary source: Arthritis Care Research
Source reference:
Nordstrom B, et al “Risk of malignancy in children with juvenile idiopathic arthritis not treated with biologic agents” Arthritis Care Res 2012; 64: 1357-1364.

Add Your Knowledge ™


Nancy Walsh

Staff Writer

Nancy Walsh has written for various medical publications in the United States and England, including Patient Care, The Practitioner, and the Journal of Respiratory Diseases. She also has contributed numerous essays to several books on history and culture, most recently to The Book of Firsts (Anchor Books, 2010).



Today's Top Medical Stories for August 29, 2012

 
Researchers at Cedars Sinai found that high doses of Vitamin B-3 can fight “super bugs.” Scientists say the vitamin helps white blood cells battle staph infections including anti-biotic resisting ones. Experts caution more study is necessary, and that people should not start taking Vitamin B-3 to treat infections.

Lack of sleep could be a new risk factor for aggressive breast cancer. A new study from University Hospital’s Case Medical Center shows a link between too little sleep and more aggressive tumors. Researchers also found lack of sleep increased the chances that cancer would come back.

And people who are normal weight but have fat around the belly have a higher risk of death than those who are obese. That’s according to a new study from the Mayo Clinic. Researchers looked at nearly 1,300 people and found those with fat concentrated in their bellies had the highest risk of cardio-vascular death as well as death from other causes.

(Duarte Geraldino, CBS News)



Thursday, August 30, 2012

Genmab Surges on Johnson & Johnson Cancer Pact: Copenhagen Mover

Genmab A/S (GEN), a Danish biotechnology
company, rose the most in more than a year after it said Johnson
Johnson (JNJ)
licensed its experimental treatment for multiple
myeloma.

Genmab shares rose as much as 25 percent, the biggest
intraday gain since Aug. 9, 2011, and were up 20 percent to 81
kroner as of 10:25 a.m. in Copenhagen.

The agreement with JJ's Janssen unit for daratumumab may
be worth at least $1.1 billion, including an upfront payment of
$55 million, milestone payments, and an $80 million equity
investment, Genmab said in a statement today. Daratumumab is a
monoclonal antibody that may have potential in treating other
types of cancers such as acute myeloid leukemia, Genmab said.

"Much had been anticipated from a licensing deal for
daratumumab and we believe this deal has more than met the
expectation," Nomura Code analyst Samir Devani said in a note
to investors today.

Genmab shares have more than doubled this year, giving the
Copenhagen-based company a market value of 3.62 billion kroner.

To contact the reporter on this story:
Makiko Kitamura in London at
mkitamura1@bloomberg.net

To contact the editors responsible for this story:
Toby Alder at
talder@bloomberg.net;
Kim McLaughlin at
kmclaughlin6@bloomberg.net



Genmab Surges on Johnson & Johnson Cancer Pact: Copenhagen Mover

Genmab A/S (GEN), a Danish biotechnology
company, rose the most in more than a year after it said Johnson
Johnson (JNJ)
licensed its experimental treatment for multiple
myeloma.

Genmab shares rose as much as 25 percent, the biggest
intraday gain since Aug. 9, 2011, and were up 20 percent to 81
kroner as of 10:25 a.m. in Copenhagen.

The agreement with JJ's Janssen unit for daratumumab may
be worth at least $1.1 billion, including an upfront payment of
$55 million, milestone payments, and an $80 million equity
investment, Genmab said in a statement today. Daratumumab is a
monoclonal antibody that may have potential in treating other
types of cancers such as acute myeloid leukemia, Genmab said.

"Much had been anticipated from a licensing deal for
daratumumab and we believe this deal has more than met the
expectation," Nomura Code analyst Samir Devani said in a note
to investors today.

Genmab shares have more than doubled this year, giving the
Copenhagen-based company a market value of 3.62 billion kroner.

To contact the reporter on this story:
Makiko Kitamura in London at
mkitamura1@bloomberg.net

To contact the editors responsible for this story:
Toby Alder at
talder@bloomberg.net;
Kim McLaughlin at
kmclaughlin6@bloomberg.net



Vitamin B12 Deficiency


Public Domain/NEUROtiker

The researchers have discovered an important gene that determines how vitamin B12 gets into cells. Their discovery enables the diagnosis and treatment of this rare genetic disease.
Vitamin B12 is vital for cell division, the synthesis of red blood cells and the functioning of the nervous system. Unable to produce the vitamin itself, the human body has to obtain it via animal proteins. So far it has been known that on its way into the cell vitamin B12 is absorbed by little organelles, so-called lysosomes. From there, the vitamin enters the cell interior with the aid of the transport protein CblF, which was discovered by the same research team three years ago. The researchers now show that a second transport protein is actually necessary for this step, thus providing evidence of another cause of hereditary vitamin B12 deficiency.

The scientists examined an individual patient with symptoms of the CblF gene defect, yet without an actual defect in this gene. Using different methods, including sequencing all the coding segments of the genetic information, they were able to identify two mutations in the same gene in both patients.

The gene in question encodes the protein ABCD4, which was previously known as an ABC transporter in other cell organelles, albeit with an insufficiently defined function. It is now clear that it is a vitamin B12 transporter: "We were able to detect ABCD4 in the lysosomes of human skin cells – right next to the already known CblF protein" explains Professor Matthias Baumgartner, Zurich's University Children's Hospital. By adding intact ABCD4 protein to the patients' cells, the researchers were able to rescue the vitamin B12 transport and compensate for the genetic defect. "We also discovered that a targeted change in the ATP binding site of ABCD4 triggered a loss of function," says Baumgartner.

Thus both ABCD4 and CblF proteins are responsible for the transfer of vitamin B12 from the lysosomes into the cell interior, and ATPase activity is involved. Baumgartner concludes: "The results obtained enable the diagnosis and treatment of this hereditary vitamin B12 deficiency."

MEDICA.de; Source: University of Zurich



A new type of prostate cancer is identified

The discovery of a second way for cancer to grow means we might one day “think of prostate cancer not as one disease but as a collection of molecularly defined subtypes, similar to breast and lung cancer,” said Dr. Mark Rubin, vice chair for experimental pathology at Weill Cornell Medical College and a co-senior investigator of the study.

Along with previous research, the study is helping flesh out the overall genetic landscape of prostate cancer — the most common cancer in men with the exception of skin cancer.

About one-sixth of men will be diagnosed with prostate cancer in their lifetime; two-thirds when they are older than 65. Prostate cancer is the second leading cause of cancer deaths in men.

Some speculate that the finding of an SPOP mutation may be one of the breakthroughs oncologists have been seeking. “Knowing what these mutations mean may give us huge clues about how the patient’s cancer will progress and how they might be best treated in the future,” said study co-author Christopher Barbieri, chief resident in urology at Weill Cornell who spent a research year in Rubin’s laboratory.

About half of all prostate cancers are characterized by the presence of so-called ETS fusion genes. A gene fusion occurs when two genes located in different parts of the genome become attached together, leading to a new function.

The new subtype of prostate cancer is defined by two factors: the presence of a mutation in the SPOP gene and the loss of DNA in an area harboring another gene.

“Alterations in these two major gatekeepers lead to a cascade of downstream events that make these tumors distinct from other prostate cancers,” said Rubin, who noted that SPOP mutations and fusion genes never occur in the same tumor, implying two distinct molecular classes of prostate cancer.

The SPOP gene belongs to a family whose job is to regulate other proteins by tagging or marking them for disposal. The team discovered the mutations occur where the SPOP protein binds to the other proteins it should tag.

“That suggests that there might be an accumulation of proteins in the cell that aren’t cleaned out and this might lead to cancer growth, or the mutations could be removing proteins that help prevent unchecked cell growth,” said Rubin.

Rubin predicted that within a year, men already confirmed with prostate cancer will be able to get tested to see what kind of subtype of prostate cancer they have and then receive tailor-made treatment. Rubin predicts future screening tests will include panels of such cancer specific markers to ensure accurate diagnosis of cancer.



Reclaiming Sex Life after Prostate Cancer: New Book Guides Men and Their ...

/PRNewswire/ — Men with prostate cancer may fear that they will never have sex again. What they are feeling can be disturbing, but there is hope. Jeffrey Albaugh, PhD, APRN, CUCNS, addresses sexual issues during and after prostate cancer treatment in a new book written specifically for patients and their partners: Reclaiming Sex Intimacy After Prostate Cancer: A Guide for Men and Their Partners.

All treatments for prostate cancer can result in diminished sexual health. Following treatment, however, when the fear of cancer lessens, this very important quality-of-life issue assumes much greater significance. Dr. Albaugh’s research-based book guides both men and their partners to a fulfilling sexual relationship after diagnosis.

“After working with thousands of men struggling with erectile dysfunction after prostate cancer treatment, I felt compelled by the incredible men and their partners I have had the pleasure of meeting, to write this book,” Dr. Albaugh explained. “Over and over I kept hearing how desperately this information was needed by the many people I met who had dealt with prostate cancer. My hope is that this information will inform and enlighten everyone who reads it.”

In a clear and patient-friendly style, with illustrative diagrams and sidebar highlights, Dr. Albaugh helps men and their partners to understand the options for prostate cancer treatment and their side effects, increase knowledge about sex and intimacy, prevail over erectile dysfunction, and learn how to preserve maximal penile function after prostate cancer treatment.

The book also includes chapters devoted to the importance of psychological well-being to normal sexual function and a message for the partners of men dealing with sexual dysfunction following prostate cancer treatment. This book is an important guide to everything men need to know to maintain sexual health and quality of life during and after prostate cancer.

Reclaiming Sex Intimacy After Prostate Cancer: A Guide for Men and Their Partners is available for purchase online at www.drjeffalbaugh.com for $12.00 plus shipping/handling. Quantity discounts are available. Visit the web site or contact prostatebook@ajj.com for more information.

SOURCE Jeffrey Albaugh, PhD, APRN, CUCNS



Announcement for Women with Menstrual Cramping: Vitamin B Provide ...

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PMS Supplement

A New Period Vitamin

Period Vitamin allows women to stop the cramps from occurring in the first place.

Chicago, IL (PRWEB) August 30, 2012

Period Vitamin announces today that their combination of Niacin, Vitamin B, and White Willow Bark prevents menstrual cramping in women. Period Vitamin is a hormone balancer that is designed to naturally and safely regulate the hormone imbalances that cause PMS symptoms in women so women no longer have cramps from PMS.

Research has recently come out that supports the eradication of cramps using Vitamin B. A study by the Palmer College of Chiropractic finds that vitamin B increases help women regulate estrogen levels and reduce menstrual cramping.

Period Vitamin works by increasing the levels of herbs, minerals and vitamins that fluctuate when hormone levels change during PMS. By increasing the vitamin B levels in a woman's system, estrogen is regulated and women can fight cramps from the root cause of menstrual cramping and not just treat the pain. Vitamin B increases help to stop the cramping for occurring in the first place. White Willow Bark and Niacin are anti-inflammatory agents that keep cramping from happening.

Women's health and menstrual cramp relief are topics that have been waning in importance to the medical community for years. Research is now showing that natural vitamins are what women need to stop their cramping.

Period Vitamin only uses the most reputable suppliers of their ingredients and has a three step quality inspection process. This means that Period Vitamin is free of fillers, preservatives and animal by-products that can cause harm to women.

There are many products on the market to treat PMS symptoms and many are supported by doctors. The problem with over-the-counter options is that they are designed to treat the symptoms of PMS, not stop the cramping from occurring in the first place. These medications also come with side effects. Since Period Vitamin is an all natural option with only the highest quality ingredients, there are no side effects.

Recently, there has been an entirely new body of research dedicated to evaluating natural supplements as an option for treating women's health issues. In 2009, the Cochrane Menstrual Disorders and Subfertility Group evaluated the effectiveness of a variety of minerals and vitamins, including Vitamin B, on menstrual cramp treatment. Their double-blind study found that women who did receive these minerals like White Willow Bark and vitamin B experienced less cramping than those women tested with a placebo. This type of research proves the effectiveness of natural remedies for treating PMS symptoms.

After finding great success in the natural supplement market, Period Vitamin is proving after being backed with positive reviews that this product is worth trying. Women everywhere are finding success with Period Vitamin and the results are creating huge leaps for improving women's health.

The first release of Period Vitamin in 2008 got strong reviews from women everywhere. In early 2012, Period Vitamin launched a reformulation that has since proven its ability to help women everywhere experience symptom free periods by getting the right levels of Vitamin B, Niacin, and White Willow Bark to prevent cramping.

Women are able to get relief from symptoms like cramping, fatigue, irritability, pain and breast tenderness and acne all from changing the intake of the vitamins, minerals and herbs that are needed for women to have good nutrition and strong overall health. Reviews and customer feedback are proving that Period Vitamin is one of the best contenders for natural supplements available to women. This makes Period Vitamin an easy choice for all women to try to relieve their menstrual cramping.

Period Vitamin is tested and approved under the Good Manufacturing Practice guidelines along with using the highest quality ingredients so Period Vitamin is 100% safe and provides no side effects.

If you want to know more about Period Vitamin, then visit http://www.PeriodVitamin.com. Period Vitamin is not sold in stores and is available on the website with free shipping and a money back guarantee if you are not completely satisfied. The only guarantees honored by the company are the ones sold on PeriodVitamin.com.

About Period Vitamin:

Period Vitamin was founded in 2008 by women seeking to better women's health through all natural PMS relief. They are a web-based business out of Chicago, Illinois and provide information as well as sell their Period Vitamin product at PeriodVitamin.com.

With a mission to allow women to have a symptom-free period every month, Period Vitamin set out to change the way people view women's health. After great success with the first iteration of Period Vitamin, the company is working to fulfill their mission by gaining a stronghold in the natural supplement marketplace.

Contact:

http://www.PeriodVitamin.com/contact.html

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A new type of prostate cancer is identified

The discovery of a second way for cancer to grow means we might one day “think of prostate cancer not as one disease but as a collection of molecularly defined subtypes, similar to breast and lung cancer,” said Dr. Mark Rubin, vice chair for experimental pathology at Weill Cornell Medical College and a co-senior investigator of the study.

Along with previous research, the study is helping flesh out the overall genetic landscape of prostate cancer — the most common cancer in men with the exception of skin cancer.

About one-sixth of men will be diagnosed with prostate cancer in their lifetime; two-thirds when they are older than 65. Prostate cancer is the second leading cause of cancer deaths in men.

Some speculate that the finding of an SPOP mutation may be one of the breakthroughs oncologists have been seeking. “Knowing what these mutations mean may give us huge clues about how the patient’s cancer will progress and how they might be best treated in the future,” said study co-author Christopher Barbieri, chief resident in urology at Weill Cornell who spent a research year in Rubin’s laboratory.

About half of all prostate cancers are characterized by the presence of so-called ETS fusion genes. A gene fusion occurs when two genes located in different parts of the genome become attached together, leading to a new function.

The new subtype of prostate cancer is defined by two factors: the presence of a mutation in the SPOP gene and the loss of DNA in an area harboring another gene.

“Alterations in these two major gatekeepers lead to a cascade of downstream events that make these tumors distinct from other prostate cancers,” said Rubin, who noted that SPOP mutations and fusion genes never occur in the same tumor, implying two distinct molecular classes of prostate cancer.

The SPOP gene belongs to a family whose job is to regulate other proteins by tagging or marking them for disposal. The team discovered the mutations occur where the SPOP protein binds to the other proteins it should tag.

“That suggests that there might be an accumulation of proteins in the cell that aren’t cleaned out and this might lead to cancer growth, or the mutations could be removing proteins that help prevent unchecked cell growth,” said Rubin.

Rubin predicted that within a year, men already confirmed with prostate cancer will be able to get tested to see what kind of subtype of prostate cancer they have and then receive tailor-made treatment. Rubin predicts future screening tests will include panels of such cancer specific markers to ensure accurate diagnosis of cancer.



Reclaiming Sex Life after Prostate Cancer: New Book Guides Men and Their ...

/PRNewswire/ — Men with prostate cancer may fear that they will never have sex again. What they are feeling can be disturbing, but there is hope. Jeffrey Albaugh, PhD, APRN, CUCNS, addresses sexual issues during and after prostate cancer treatment in a new book written specifically for patients and their partners: Reclaiming Sex Intimacy After Prostate Cancer: A Guide for Men and Their Partners.

All treatments for prostate cancer can result in diminished sexual health. Following treatment, however, when the fear of cancer lessens, this very important quality-of-life issue assumes much greater significance. Dr. Albaugh’s research-based book guides both men and their partners to a fulfilling sexual relationship after diagnosis.

“After working with thousands of men struggling with erectile dysfunction after prostate cancer treatment, I felt compelled by the incredible men and their partners I have had the pleasure of meeting, to write this book,” Dr. Albaugh explained. “Over and over I kept hearing how desperately this information was needed by the many people I met who had dealt with prostate cancer. My hope is that this information will inform and enlighten everyone who reads it.”

In a clear and patient-friendly style, with illustrative diagrams and sidebar highlights, Dr. Albaugh helps men and their partners to understand the options for prostate cancer treatment and their side effects, increase knowledge about sex and intimacy, prevail over erectile dysfunction, and learn how to preserve maximal penile function after prostate cancer treatment.

The book also includes chapters devoted to the importance of psychological well-being to normal sexual function and a message for the partners of men dealing with sexual dysfunction following prostate cancer treatment. This book is an important guide to everything men need to know to maintain sexual health and quality of life during and after prostate cancer.

Reclaiming Sex Intimacy After Prostate Cancer: A Guide for Men and Their Partners is available for purchase online at www.drjeffalbaugh.com for $12.00 plus shipping/handling. Quantity discounts are available. Visit the web site or contact prostatebook@ajj.com for more information.

SOURCE Jeffrey Albaugh, PhD, APRN, CUCNS



Importance of B3 vitamin for digestion, muscle development, sex and stress ...

B3 helps breakdown carbs, fats and proteinsB3 helps breakdown carbs, fats and proteins
Niacin, or vitamin B3, is an important member of the B-complex of vitamins. As with the other B vitamins, niacin plays an important role in energy production through the breakdown of carbohydrates, fats and proteins. B3 also promotes proper nervous, digestive, and muscle system functions. Niacin is also necessary for the formation of numerous sex and stress hormones as well as red blood cells.

More than other B-complex vitamins, niacin has been shown to have specific therapeutic effects with diseases such as elevated cholesterol and triglycerides, diabetes, atherosclerosis and arthritis. These conditions are treated with high levels of various forms of B3, including niacin, niacinamide, and inositol hexaniacinate. High levels of vitamin B3 can damage the liver and should be used under professional supervision.

Nicotinic acid lowers LDL or bad cholesterol, and raises HDL, or good cholesterol, and is nearly as effective as the commonly prescribed statin drugs in some studies, and is far less expensive. It can also reduce triglyceride levels. Since nicotinic acid opens blood vessels, high doses can cause flushing, itching and significant drops in blood pressure. Such side effects can lead to dizziness and headaches. Small doses of aspirin can reduce the flushing effects of niacin. Nicotinimide can be used to treat or prevent some forms of diabetes. People who consume more than two drinks per day, or have liver disease, should not take high dosages of vitamin B3. Niacin should not be taken with the antibiotic, tetracycline, because it can interfere with the absorption and effectiveness of this medication.

The body can convert the amino acid tryptophan into vitamin B3. Many high protein foods such as meat, chicken, fish, dairy products, sunflower seeds and legumes are rich in niacin.

See more:
Irish health, Science news, Medical news




Wednesday, August 29, 2012

Scientists find gene linked with Vitamin B-12 defieciency

Scientists find gene linked with Vitamin B-12 defieciency

By:
HP Bureau

Vitamin B12 Deficiency gene FoundToronto: Vitamin B12 is vital for healthy functioning of our nervous system, but some people who suffer from its deficiency because of a rare genetic disorder, develop psychosis, stroke and dementia, says a study.

"This discovery will lead to the early diagnosis of this serious genetic disorder and has given us new paths to explore treatment options. It also helps explain how vitamin B12 functions in the body, even for those without the disorder," said study co-author David Rosenblatt.

Rosenblatt is a scientist in medical genetics and genomics at the Research Institute of the McGill University Health Centre (RI MUHC), Canada, the journal Nature Genetics reports.

The latest findings build on previous research by the same team from the RI MUHC, with colleagues in Switzerland, Germany and the US.

In previous work, researchers discovered that vitamin B12 enters our cells with the help of a specific transport protein, according to a McGill statement.

Their work led to the discovery of a new gene, ABCD4, tied to the transport of B12 and responsible for the vitamin's deficiency. Using next generation sequencing of the patients' genetic information, scientists identified two mutations in the same ABCD4 gene in patients.

Rosenblatt is the director of one of only two referral labs in the world for patients suspected of having this genetic inability to absorb vitamin B12.

Vitamin B12 is also essential for synthesis of red blood cells.

Unable to produce the vitamin itself, the human body has to obtain it from animal-based foods such as milk products, eggs, red meat, chicken, fish, and shellfish – or vitamin supplements.

Vitamin B12 is not found in vegetables.

-IANS



Breast Cancer Recurrence Risk Goes Up With Weight

VIDEO: Dr. Jennifer Ligibel says significant hormones are affected by shedding pounds.

Even being moderately overweight is linked to a higher risk of breast cancer recurrence, finds a new study published Monday in the journal Cancer.

Despite the best treatment, researchers at Montefiore Medical Center found, the higher a woman’s body mass index (BMI), the higher her risk of developing breast cancer again after treatment. Moreover, women who were obese at time of breast cancer diagnosis had approximately a 30 percent higher risk of recurrence and a nearly 50 percent higher risk of death than those who were normal weight at time of diagnosis.

“Treatment strategies aimed at interfering with hormonal changes and inflammation caused by obesity may help reduce the risk of recurrence,” said lead study researcher Dr. Joseph Sparano, associate chairman of medical oncology at the Montefiore Einstein Center for Cancer Care, in a news release today.

The idea that extra body fat may lead to an increased chance of breast cancer coming back makes sense, as this fat causes hormonal changes as well as increased inflammation. The increase in hormone and inflammation can cause some breast cancer cases to spread — and even to recur.


VIDEO: Dr. Jennifer Ligibel says significant hormones are affected by shedding pounds.

VIDEO: Dr. Jennifer Ligibel says significant hormones are affected by shedding pounds.













“As fat cells also are producers of estrogen, obese persons may not have the same degree of estrogen suppression from anti-estrogen therapies used to treat and prevent breast cancer,” said Dr. Jennifer Litton, assistant professor of oncology at the University of Texas MD Anderson Cancer Center in Houston.

This study found that despite optimal treatment, including chemotherapy and hormonal therapy, the increased body mass index — which usually corresponds to the body’s fat content — significantly increased women’s risk of cancer recurrence and death. Additionally, the more obese the patient is, the more likely they are to have breast recurrence and death from this cancer.

Dr. Clifford Hudis, chief of the Breast Cancer Medicine Service at Memorial Sloan-Kettering Cancer Center in New York, is part of a team that has investigated the connection between weight and cancer incidence. He said that this new study adds yet more weight to the idea of this connection.

“It is clear that there are myriad additional negative consequences of obesity including increased risks of non-hormonally mediated cancers,” Hudis said.

In the new study, the type of breast cancer that was increased was hormone receptor-positive, the most common type of breast cancer that accounts for two-thirds of all breast cancer cases in the United States and worldwide.

“We absolutely believe that weight loss is critical to prevention of breast cancer, as well as recurrence,” said Dr. Jay Brooks, oncologist at Ochsner Clinic Foundation and Hospital in Baton Rouge, La. “I tell my patient that next to taking [chemotherapy] treatments, the simple most important thing they can do is lose weight.”



Breast Cancer Recurrence Risk Goes Up With Weight

VIDEO: Dr. Jennifer Ligibel says significant hormones are affected by shedding pounds.

Even being moderately overweight is linked to a higher risk of breast cancer recurrence, finds a new study published Monday in the journal Cancer.

Despite the best treatment, researchers at Montefiore Medical Center found, the higher a woman’s body mass index (BMI), the higher her risk of developing breast cancer again after treatment. Moreover, women who were obese at time of breast cancer diagnosis had approximately a 30 percent higher risk of recurrence and a nearly 50 percent higher risk of death than those who were normal weight at time of diagnosis.

“Treatment strategies aimed at interfering with hormonal changes and inflammation caused by obesity may help reduce the risk of recurrence,” said lead study researcher Dr. Joseph Sparano, associate chairman of medical oncology at the Montefiore Einstein Center for Cancer Care, in a news release today.

The idea that extra body fat may lead to an increased chance of breast cancer coming back makes sense, as this fat causes hormonal changes as well as increased inflammation. The increase in hormone and inflammation can cause some breast cancer cases to spread — and even to recur.


VIDEO: Dr. Jennifer Ligibel says significant hormones are affected by shedding pounds.

VIDEO: Dr. Jennifer Ligibel says significant hormones are affected by shedding pounds.













“As fat cells also are producers of estrogen, obese persons may not have the same degree of estrogen suppression from anti-estrogen therapies used to treat and prevent breast cancer,” said Dr. Jennifer Litton, assistant professor of oncology at the University of Texas MD Anderson Cancer Center in Houston.

This study found that despite optimal treatment, including chemotherapy and hormonal therapy, the increased body mass index — which usually corresponds to the body’s fat content — significantly increased women’s risk of cancer recurrence and death. Additionally, the more obese the patient is, the more likely they are to have breast recurrence and death from this cancer.

Dr. Clifford Hudis, chief of the Breast Cancer Medicine Service at Memorial Sloan-Kettering Cancer Center in New York, is part of a team that has investigated the connection between weight and cancer incidence. He said that this new study adds yet more weight to the idea of this connection.

“It is clear that there are myriad additional negative consequences of obesity including increased risks of non-hormonally mediated cancers,” Hudis said.

In the new study, the type of breast cancer that was increased was hormone receptor-positive, the most common type of breast cancer that accounts for two-thirds of all breast cancer cases in the United States and worldwide.

“We absolutely believe that weight loss is critical to prevention of breast cancer, as well as recurrence,” said Dr. Jay Brooks, oncologist at Ochsner Clinic Foundation and Hospital in Baton Rouge, La. “I tell my patient that next to taking [chemotherapy] treatments, the simple most important thing they can do is lose weight.”



Former Senator Arlen Specter diagnosed with cancer again

His office also declined to comment on local media reports that Specter has been hospitalized.

“I’m battling cancer,” Specter said in the statement. “It’s another battle I intend to win. I’m grateful for all the well-wishes I’ve received. I’m looking forward to getting back to work, to the comedy stage, to the squash court and to the ballpark.”

In mentioning the stage, Specter was referring to his performances following his political career as an amateur stand-up comic. He appeared at Caroline’s Comedy Club in Manhattan, for instance.

A political moderate, Specter was a five-term U.S. senator from Pennsylvania, serving as a Republican until he switched parties and became a Democrat in 2009. He said at the time the Republican Party had moved too far to the right.

The next year he lost Pennsylvania’s Democratic primary for the seat.

Early in his career, Specter was a staffer for the Warren Commission, which investigated the assassination of President John F. Kennedy.

In a still-controversial finding, Specter was the main architect of what is known as the single-bullet theory, which argued that the president and Texas Governor John Connally, riding in the same car, were hit by the same bullet.

In 1965 he became the district attorney of Philadelphia, and was eventually elected to the U.S. Senate in 1980.

(Editing by Paul Thomasch and Philip Barbara)



Former Senator Arlen Specter diagnosed with cancer again

His office also declined to comment on local media reports that Specter has been hospitalized.

“I’m battling cancer,” Specter said in the statement. “It’s another battle I intend to win. I’m grateful for all the well-wishes I’ve received. I’m looking forward to getting back to work, to the comedy stage, to the squash court and to the ballpark.”

In mentioning the stage, Specter was referring to his performances following his political career as an amateur stand-up comic. He appeared at Caroline’s Comedy Club in Manhattan, for instance.

A political moderate, Specter was a five-term U.S. senator from Pennsylvania, serving as a Republican until he switched parties and became a Democrat in 2009. He said at the time the Republican Party had moved too far to the right.

The next year he lost Pennsylvania’s Democratic primary for the seat.

Early in his career, Specter was a staffer for the Warren Commission, which investigated the assassination of President John F. Kennedy.

In a still-controversial finding, Specter was the main architect of what is known as the single-bullet theory, which argued that the president and Texas Governor John Connally, riding in the same car, were hit by the same bullet.

In 1965 he became the district attorney of Philadelphia, and was eventually elected to the U.S. Senate in 1980.

(Editing by Paul Thomasch and Philip Barbara)



In new gene disorder, B12 can't get to cells

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Some people have inherited conditions that leave them unable to process vitamin B12, which is essential to human health. As a result they are prone to serious health problems, including developmental delay, psychosis, stroke, and dementia.

The discovery, reported in the journal Nature Genetics, will help doctors better diagnose this rare genetic disorder and open the door to new treatments.

Straight from the Source

Read the original study

DOI: 10.1038/ng.2386

"We found that a second transport protein was involved in the uptake of the vitamin into the cells, thus providing evidence of another cause of hereditary vitamin B12 deficiency", says David Rosenblatt, one of the study's co-authors and a scientist in medical genetics and genomics at the Research Institute of the McGill University Health Centre (RI MUHC).

"It is also the first description of a new genetic disease associated with how vitamin B12 is handled by the body," he says.

These results build on previous research by the same team with their colleagues in Switzerland, Germany, and the US. In previous work, the researchers discovered that vitamin B12 enters our cells with help from a specific transport protein. In this study, they were working independently with two patients showing symptoms of the cblF gene defect of vitamin B12 metabolism but without an actual defect in this gene.

Their work led to the discovery of a new gene, ABCD4, associated with the transport of B12 and responsible for a new disease called cblJ combined homocystinuria and methylmalonic aciduria (cblJ-Hcy-MMA).

Using next generation sequencing of the patients' genetic information, the scientists identified two mutations in the same ABCD4 gene in both patients. "We were also able to compensate for the genetic mutation by adding an intact ABCD4 protein to the patients' cells, thus allowing the vitamin to be properly integrated into the cells," explains Matthias Baumgartner, senior author of the study and a professor of metabolic diseases at Zurich's University Children's Hospital.

Vitamin B12, or cobalamin, is essential for healthy functioning of the human nervous system and red blood cell synthesis. Unable to produce the vitamin itself, the human body has to obtain it from animal-based foods such as milk products, eggs, red meat, chicken, fish, and shellfish—or vitamin supplements. Vitamin B12 is not found in vegetables.

"This discovery will lead to the early diagnosis of this serious genetic disorder and has given us new paths to explore treatment options. It also helps explain how vitamin B12 functions in the body, even for those without the disorder," says Rosenblatt, the director of one of only two referral laboratories in the world for patients suspected of having this genetic inability to absorb vitamin B12.

This work was funded by the Canadian Institutes of Health Research (CIHR), the Swiss National Science Foundation, and the Deutsche Forschungsgemeinschaft.

Study co-authors contributed from University Children's Hospitals in Basel and Zürich, Switzerland; McGill and RI MUHC; Genome Quebec Innovation Centre; University Children's Hospital in Münster, Germany; University of Cologne in Germany; University of Utah; ARUP Laboratories in Salt Lake City, Utah; Leibniz Institute for Arteriosclerosis Research in Münich, Germany; Charité University Medicine in Berlin, Germany; and University Children's Hospital in Mainz, Germany.

Source: McGill University