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

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

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:12/17/2014)... 16, 2014 Valencell, a leader in performance ... technology to industry leaders such as Intel, Jabra, Atlas, ... biometric wearable products. These products will be showcased at ... Las Vegas . "Our partners ... and robust – with the clinical data to back ...
(Date:12/17/2014)... , Dec. 16, 2014  Automation is fundamentally ... more evident than at international borders. Over the ... scanners have allowed veteran travelers to self process ... Control (APC) Kiosks at an increasing number of ... According to Maxine Most ...
(Date:12/11/2014)... , Dec. 09, 2014 Research and ... ( http://www.researchandmarkets.com/research/twhjll/biometrics_market ) has ... in the APAC Region 2015-2019"  report to their ... in this market is advances in technology. With ... upgrade biometric solutions to the latest standard that ...
Breaking Biology News(10 mins):Valencell PerformTek Biometrics Power the Most Accurate Wearables at CES 2015 2Automated Border Control (ABC) Transforms the Global Travel Experience With More Than 2500 ABC eGates and APC Kiosks Deployed In Airports, Seaports, and Land Borders Worldwide 2Biometrics Market in the APAC Region 2015-2019: Key Vendors are 3M Cogent, NEC, Safran and Suprema 2
... is a major obstacle for the proper treatment of patients ... of Rare Cancers was presented today by RARE CANCERS ... Oncology (ESMO) and the European Society of Pathology ... cancer patients get a timely and accurate diagnosis. The ...
... University of York scientist,s experience in seeing his partner ... him to design and synthesise new chemical agents that ... the University,s Department of Chemistry, led an international team ... the anti-coagulant heparin., Professor Smith says: ,I was sitting ...
... at the California Institute of Technology (Caltech) demonstrated a ... treatment that protected the mice from infection by a ... led by Nobel Laureate David Baltimore, have shown that ... strain of HIV found in the real world, even ...
Cached Biology News:Rare cancers: the challenge of accurate diagnosis -- press release 2From surgery to laboratory and back again 2
(Date:12/24/2014)... 2014 Vermillion, Inc. (Nasdaq:   VRML), ... announced today that investors including Oracle Investment Management, ... and several Vermillion directors have agreed to purchase ... common stock and warrants to purchase unregistered shares ... Under the terms of the ...
(Date:12/22/2014)... & Brussels (PRWEB) December 22, 2014 ... (CfPIE), the global leader of technical training across the ... for Clinical Data Management (SCDM) to provide the ... certification programs —providing access to the more than ... extends SCDM members with 10% off when registering for ...
(Date:12/22/2014)... , Dec. 22, 2014  ( www.competitivehealth.com ) — ... online medical bill review and advocacy service, has signed ... FREE WellCard Savings discount health services marketplace. ... was more than they expected to pay. As part ... care costs, WellCard Savings is pleased to offer medical ...
(Date:12/19/2014)... MA (PRWEB) December 19, 2014 Charm ... MRLAFMQ test for the Detection of Aflatoxin M1 in ... to receive independent third party validation. The peer reviewed ... Unit of the Institute for Agricultural and Fisheries Research ... Group. , Aflatoxin B1, the most toxic aflatoxin ...
Breaking Biology Technology:Vermillion Announces Equity Financing of up to $18.9 Million; Suspends ATM Program 2Vermillion Announces Equity Financing of up to $18.9 Million; Suspends ATM Program 3Vermillion Announces Equity Financing of up to $18.9 Million; Suspends ATM Program 4Vermillion Announces Equity Financing of up to $18.9 Million; Suspends ATM Program 5CfPIE Announces Partnership with the Society for Clinical Data Management 2CfPIE Announces Partnership with the Society for Clinical Data Management 3WellCard Savings Announces CoPatient Medical Bill Review Service for Members 2Charm Sciences Achieves Independent Validation of First 15 Minute Quantitative Screening Method for Aflatoxin M1 2
... maneuver separately without any obvious guidance are now assembling ... by a Duke University computer scientist. , "It,s marvelous ... this fine a resolution with such very, very tiny ... science and biochemistry. , Each microrobot is shaped something ...
... CALL DATE: Tuesday, June 3, 2008, TIME: ... Dr. Candace Kendle, Chairman and CEO ... call and,simultaneous webcast on Tuesday, June 3 at 9:30 a.m. Eastern ... on May 30 and to provide an update on second quarter,progress. ...
... Medline Industries, Inc., the,nation,s largest privately held manufacturer ... has signed a three-year agreement to,purchase mouth rinse ... personal care, infection control and diagnostic use in ... in the healthcare market, we are,happy to extend ...
Cached Biology Technology:Microrobots dance on something smaller than a pin's head 2Microrobots dance on something smaller than a pin's head 3Kendle to Host Conference Call and Webcast to Discuss DecisionLine Acquisition and Provide Update on Second Quarter Progress 2Medline Signs 3-Year Purchasing Agreement for Mouth Rinse From Chester Labs 2
... Contents include: Microarray hybridization chamber ... chamber top, clamp, thumbscrew) Microarray chamber user ... and are intended to be cleaned and ... with Agilents Catalog Oligo Microarray kits and ...
Formula variant: With the macro- and micronutrients as described by Lloyd and McCown (1981). Preparation Quantity Equivalency: Formulated to contain 2.3 grams of powder per liter of medium. Physical ...
... Staining Kit is a very sensitive immunohistochemical ... cells, containing both anti-von Willebrand Factor and ... a variety of species. This AP kit ... staining of frozen and paraffin-embedded sections in ...
... For separation ... proteins Efficient separation of nuclei ... reduction in sample complexity, greatly ... proteins Subfractionation of nucleic acid ...
Biology Products: