Researchers discover gene behind devastating vitamin B12-related disorder

April 3, 2008

Swiss, British and Canadian researchers have identified the gene responsible for a rare but serious genetic disorder and have simultaneously provided more clues as to how vitamin B12 works in the body. Their results will be published April 3 in the New England Journal of Medicine.

Scientists at the University Children’s Hospitals of Basel and Zurich in Switzerland, Brunel University in West London, England and McGill University and the McGill University Health Centre (MUHC) in Montreal, Canada, have discovered the MMADHC gene, the role it plays in the metabolism of vitamin B12, and its relationship to the vitamin B12-related disorder, isolated and combined homocystinuria and methylmalonic aciduria (MMA) of the cblD variety..

Authors of the study include Dr. David Coelho, Dr. Terttu Suormala and Dr. Brian Fowler of the University Children’s Hospital, Basel, Dr. David Rosenblatt and his graduate student Jordan Lerner-Ellis of McGill and the MUHC and colleagues at the University Children’s Hospital, Zurich, the University of Zurich and Brunel University. In 2005, Dr. Rosenblatt and his McGill and MUHC colleagues made a related breakthrough involving another gene, called MMACHC.

Isolated and combined homocystinuria and MMA of the cblD variety is a rare genetic inability to process vitamin B12, which is usually diagnosed in infancy or childhood. Patients may suffer from a range of debilitating health problems, including serious developmental delay, psychosis and anemia. Despite the variety of symptoms presented by the disorder, this research shows all of them are caused by mutations in different parts of the same gene.

Vitamin B12 is an essential water-soluble vitamin found in animal-based foods -- including dairy, eggs, meat, poultry, fish and shellfish -- but not in plants. It is vital for the synthesis of red blood cells and the healthy maintenance of the nervous system, and also helps control homocysteine levels.. Excess homocysteine is associated with increased risk of heart disease, stroke and dementia.

“Most patients with B12 problems have difficulty absorbing the vitamin, or may be vegans who don’t get it in their diet,” said Dr. Rosenblatt, Chair of McGill’s Department Human Genetics, Director of Medical Genetics in Medicine at the MUHC, and Chief of Medical Genetics at the Jewish General Hospital. “However, this select group of patients becomes extremely sick because their bodies cannot transform the vitamin into its active forms.”

The research relied heavily on the expertise developed at McGill and Basel as world referral centres for the diagnosis of B12-related genetic diseases, Dr. Rosenblatt said. The study was funded in part by the Canadian Institutes of Health Research (CIHR).

“This important paper - published in the world's highest impact medical journal - is on-going testimony to the international leadership of Dr. Rosenblatt and his colleagues at McGill in their studies of vitamin B12 and the genetic diseases that disrupt the ability of the body to use vitamin B12,” said Dr. Roderick McInnes, Scientific Director of CIHR's Institute of Genetics. “This research also exemplifies the outstanding genetics research done by Canadian scientists.”

“This discovery offers earlier diagnosis and treatment options for this serious disease, and also helps explain the mechanism of how vitamin B12 works in everyone,” said Dr. Rosenblatt.

Source: McGill University

4.5 /5 (2 votes)  

Filter


Move the slider to adjust rank threshold, so that you can hide some of the comments.


Display comments: newest first

vlam67
Apr 03, 2008

Rank: 4 / 5 (1)
This research is highly questionable as to its validity. If B12 is found only in animal-based foods, strict vegetarians such as monks in Asia, some are raised from babies, would suffer the same effect as the genetic inability to process B12, as there is none to process! Thus they should be:
1- Retarded (serious developmental delay)
2- Crazy as hell (psychosis)
3- Pale and sick and weak as a vampire without a fix (anemia)
In fact, most of those monks are intelligent, wise, and many do kick-ass kungfu without breaking a sweat!
nilbud
Apr 07, 2008

Rank: 1 / 5 (1)
In fact most of those monks are bullshit artists scamming gullible tourists and you could break one in half with a decent kick.
vlam67
Apr 08, 2008

Rank: not rated yet
Hah, hah, sure, those must be those state-trained lackeys approved and sent into temples across China and Vietnam to watch out for and speak against dissidents...while not ripping off tourists...
But my observations about pure vegetarians still hold true.
Rank 4.5 /5 (2 votes)
Tags

Related Stories
Relevant PhysicsForums posts

More news stories

Overeating may double risk of memory loss

New research suggests that consuming between 2,100 and 6,000 calories per day may double the risk of memory loss, or mild cognitive impairment (MCI), among people age 70 and older. The study was released today and will be ...

Medicine & Health / Neuroscience

created 1 hour ago | popularity 5 / 5 (1) | comments 0 | with audio podcast

Injured boomers beware: Know when to see doctor

(AP) -- It happened to nurse Jane Byron years after an in-line skating fall, business owner Haralee Weintraub while doing "men's" push-ups, and avid cyclist Gene Wilberg while lifting a heavy box.

Medicine & Health / Health

created 6 hours ago | popularity 5 / 5 (1) | comments 0

Starve a virus, feed a cure? Findings show how some cells protect themselves against HIV

A protein that protects some of our immune cells from the most common and virulent form of HIV works by starving the virus of the molecular building blocks that it needs to replicate, according to research published online ...

Medicine & Health / Research

created 5 hours ago | popularity 5 / 5 (1) | comments 0 | with audio podcast

FDA-approved drug rapidly clears amyloid from the brain, reverses Alzheimer's symptoms in mice

Neuroscientists at Case Western Reserve University School of Medicine have made a dramatic breakthrough in their efforts to find a cure for Alzheimer's disease. The researchers' findings, published in the journal Science, show t ...

Medicine & Health / Neuroscience

created Feb 09, 2012 | popularity 4.9 / 5 (58) | comments 15 | with audio podcast

Green tea found to reduce disability in the elderly

(Medical Xpress) -- A lot of research has been done over the past several years looking into the health benefits of green tea. As a result, scientists have found that regular consumption of the beverage leads ...

Medicine & Health / Health

created Feb 07, 2012 | popularity 4.4 / 5 (15) | comments 10 | with audio podcast report


Google might launch Drive for cloud storage soon

(PhysOrg.com) -- Google's next big move, according to the Wall Street Journal, is a cloud storage service called Drive. Hardly first to the plate, Google is simply catching up to introducing its cloud reposi ...

Scientists discover molecular secrets of 2,000-year-old Chinese herbal remedy

For roughly two thousand years, Chinese herbalists have treated Malaria using a root extract, commonly known as Chang Shan, from a type of hydrangea that grows in Tibet and Nepal. More recent studies suggest that halofuginone, ...

New method to examine batteries -- MRI from the inside

There is an ever-increasing need for advanced batteries for portable electronics, such as phones, cameras, and music players, but also to power electric vehicles and to facilitate the distribution and storage of energy derived ...

Lab study raises questions over nano-particle impact

Tests involving chickens have raised questions about the impact on health from engineered nano-particles, the ultra-fine grains commonly used in drugs and processed foods, scientists said on Sunday.

A mitosis mystery solved: How chromosomes align perfectly in a dividing cell

Although the process of mitotic cell division has been studied intensely for more than 50 years, Whitehead Institute researchers have only now solved the mystery of how cells correctly align their chromosomes during symmetric ...

Researchers find extensive RNA editing in human transcriptome

In a new study published online in Nature Biotechnology, researchers from BGI, the world's largest genomics organization, reported the evidence of extensive RNA editing in a human cell line by analysis of RNA-seq data, demons ...