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
'/>"/>

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

Page: 1 2

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:4/17/2014)... University of Texas Medical Branch at Galveston are ... with radiation for cervical cancer should begin colorectal ... The UTMB researchers, finding a high incidence of ... with radiation, offer new recommendations that the younger ... about eight years after their initial cervical cancer ...
(Date:4/17/2014)... immune system may fight cancers and viral infections. The ... treat illness. , The research, in mice, suggests that ... specialized squads of defenders that patrol only one ... the body. , Scientists at Washington University School of ... skin and uterus each has dedicated immune cells, which ...
(Date:4/17/2014)... feature of The Proceedings of the ... April 29, raises a number of startling questions about ... us take for granted. At the end of the ... globe shifted from hunting animals and gathering fruits and ... so straightforward and yet the more scientists learn, the ...
Breaking Biology News(10 mins):Radiation therapy for cervical cancer increases risk for colorectal cancer 2Some immune cells defend only 1 organ 2Genetic study tackles mystery of slow plant domestications 2Genetic study tackles mystery of slow plant domestications 3Genetic study tackles mystery of slow plant domestications 4
... try to reach for a break in the canopy formed ... avoidance syndrome or SAS. Now, the molecular details of SAS ... Institute for Biological Studies. To step out of ... for the synthesis of the plant growth hormone auxin that ...
... Cold Spring Harbor, NY In the neuromuscular disease ... caused by a single gene mutation leads to serious ... control. Now, in laboratory experiments, researchers at ... induced cells to replenish the protein by activating an ...
... born with silver spoons in their mouths. The same ... world, according to research done in part by the ... squirrels in Kluane, Yukon, revealed that advantageous silver spoon ... between birth and weaning could reflect later on each ...
Cached Biology News:A place in the sun 2A place in the sun 3Cold Spring Harbor Laboratory scientists devise potential approach to treat spinal muscular atrophy 2
(Date:1/15/2014)... (PRWEB) January 15, 2014 Two champions ... continued their sponsorship of an annual competition for middle ... and access to, innovative STEM study. The competition presents ... TEAMS: Tests of Engineering Aptitude, Mathematics, and Sciences ...
(Date:1/15/2014)... AudioNotch is the internet's leading provider of Notched Sound ... Patients listen to sound therapy that is tailor-made for ... to months, their tinnitus volume decreases. , AudioNotch has previously ... Notched White Noise. Now, AudioNotch is pleased to announce to ...
(Date:1/14/2014)... 2014  3D Communications, a leading provider of strategic communications services to ... events in the United States and ... Cox , JD, is returning to the firm,s Washington, ... 3D after more than two years of service as Associate Commissioner ...
(Date:1/14/2014)... 2014 iLab Solutions, the leader in core ... Director of Product Strategy. In this role, Michelle will work ... to guide in the development of iLab products. Her main ... possible benefit to the scientific community by offering the most ...
Breaking Biology Technology:Technology Student Association Partners with Leaders in STEM Education Advocacy for Annual Competition 2Technology Student Association Partners with Leaders in STEM Education Advocacy for Annual Competition 3Technology Student Association Partners with Leaders in STEM Education Advocacy for Annual Competition 4Technology Student Association Partners with Leaders in STEM Education Advocacy for Annual Competition 5Former FDA Associate Commissioner Returns To 3D Communications 2iLab Solutions Announces Michelle Detwiler as the New Director of Product Strategy 2
... third-party plug-in for popular embedded tool suite. , ... ... Quadros Systems, Inc., a leading supplier of configurable and scalable ... module for the RTXC Quadros RTOS is now available for ...
... on Tuesday, July 15 at 4:30 p.m. Eastern -, ... VRML ), a molecular diagnostics company, will host a ... Ueland,M.D., Principal Investigator on the submission and Associate Professor ... the keynote,speaker of the roundtable., Vermillion,s ovarian tumor ...
... 11 Signalife,Inc. (Amex: SGN ) announced ... its previously-announced merger or similar business combination with,Heart ... has been,appointed to proceed with due diligence and ... presently contemplated, a new parent,company will be established ...
Cached Biology Technology:RTXC Kernel Awareness Module from Quadros Systems Now Available for Keil Vision Debugger 2RTXC Kernel Awareness Module from Quadros Systems Now Available for Keil Vision Debugger 3RTXC Kernel Awareness Module from Quadros Systems Now Available for Keil Vision Debugger 4Vermillion to Host Live Roundtable Discussion With Principal Investigator of OVA1(TM) Submission 2Vermillion to Host Live Roundtable Discussion With Principal Investigator of OVA1(TM) Submission 3Signalife Board Approves Merger 2Signalife Board Approves Merger 3
... Activins are polypeptide hormones which belong ... superfamily. The TGF- superfamily is a ... which control many aspects of development, ... Other members incude TGF-s, bone morphogenetic ...
... Activins are polypeptide hormones which ... (TGF-) superfamily. The TGF- superfamily is ... factors which control many aspects of ... (1). Other members incude TGF-s, bone ...
... are polypeptide hormones which belong to ... The TGF- superfamily is a large ... control many aspects of development, reproductive ... members incude TGF-s, bone morphogenetic proteins, ...
... Sterile plating in just seconds , ... ethanol flaming, More uniform spreading and more ... dispenser bottle for spreading 100 plates or single-use ... easiest way to spread cells on multiple plates ...
Biology Products: