Navigation Links
Vitamin B12 deficiency: Tracking the genetic causes
Date:8/26/2012

This release is available in French.

Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, psychosis, stroke and dementia. An international research team recently discovered a new genetic disease related to vitamin B12 deficiency by identifying a gene that is vital to the transport of vitamin into the cells of the body. This discovery will help doctors better diagnose this rare genetic disorder and open the door to new treatments. The findings are published in the journal Nature Genetics.

"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", said Dr. David Rosenblatt, one of the study's co-authors, scientist in medical genetics and genomics at the Research Institute of the McGill University Health Centre (RI MUHC) and Dodd Q. Chu and Family Chair in Medical Genetics and the Chair of the Department of Human Genetics at McGill University. "It is also the first description of a new genetic disease associated with how vitamin B12 is handled by the body".

These results build on previous research by the same team from the RI MUHC and McGill University, with their colleagues in Switzerland, Germany and the United States. In previous work, the researchers discovered that vitamin B12 enters our cells with help from of 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," explained Dr. 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," said Dr. Rosenblatt who is the director of one of only two referral laboratories in the world for patients suspected of having this genetic inability to absorb vitamin B12. Dr. Rosenblatt points out that the study of patients with rare diseases is essential to the advancement of our knowledge of human biology.


'/>"/>

Contact: Julie Robert
julie.robert@muhc.mcgill.ca
514-934-1934 x71381
McGill University Health Centre
Source:Eurekalert

Related biology news :

1. Clinical trial launches to see whether vitamin D helps treat multiple sclerosis
2. Vitamin D supplements may protect against viral infections during the winter
3. Vitamin D for pregnant women and babies -- how much is enough?
4. Collaborative research team identifies safe upper level for vitamin A consumption for puppies
5. Health benefits of vitamin D dependent on type taken
6. Vitamin D with calcium shown to reduce mortality in elderly
7. 15th Vitamin D Workshop begins tomorrow
8. Link between vitamin C and twins can increase seed production in crops
9. Low vitamin D levels linked to weight gain in some older women
10. Obesity plus low vitamin D may add up to a greater risk of diabetes
11. Scientists confirm existence of vitamin deserts in the ocean
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:2/1/2016)... , February 1, 2016 ... advancements to drive global touchfree intuitive gesture control market ... --> Rising sales of consumer electronics coupled with ... control market size through 2020 ... electronics coupled with new technological advancements to drive global ...
(Date:2/1/2016)... Fla. , Feb. 1, 2016  Wocket® smart wallet ( www.wocketwallet.com ... and television personality, Joey Fatone . Las Vegas ... greet fans. --> Las Vegas , where ... --> The new video ad was filmed at the Consumer ... appeared at the Wocket booth to meet and greet fans. ...
(Date:1/27/2016)... Jan. 27, 2016  Rite Track, Inc. a leading ... West Chester, Ohio announced today the ... staff, based in Austin, Texas , ... to provide modifications, installations and technical support offerings for ... of PLUS, commented, "PLUS has provided world class service ...
Breaking Biology News(10 mins):
(Date:2/4/2016)... -- ContraVir Pharmaceuticals, Inc. (NASDAQ: CTRV ), a ... targeted antiviral therapies, announced today that it will present ... held February 8-9, 2016, at the Waldorf Astoria New ... Healthcare Conference, taking place in New York ... Sapirstein , Chief Executive Officer of ContraVir, will provide ...
(Date:2/4/2016)... California (PRWEB) , ... February 04, 2016 , ... ... Intelligence (AI) and leading supplier of Semantic Graph Database technology has been recognized ... Database Products ” by Corporate America Magazine. , “At Corporate America, it’s our ...
(Date:2/3/2016)...   ViaCyte, Inc ., a leading, privately-held ... cell-derived islet replacement therapy for the treatment of ... that ViaCyte and Janssen Biotech, Inc., one of ... have agreed to consolidate the assets of the ... ViaCyte with an exclusive license to all BetaLogics ...
(Date:2/3/2016)... -- Ascendis Pharma A/S (Nasdaq: ASND ), a ... technology to address significant unmet medical needs, today announced ... Partners Global Healthcare Conference Location: , Waldorf Astoria, ... Time:  , 11:55am EST www.ascendispharma.com . ... audio webcast of this event will be posted to ...
Breaking Biology Technology: