Navigation Links
Vitamin B12 deficiency: Tracing the causes
Date:8/27/2012

This release is available in German.

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.

Gene mutation prevents transport of vitamin B12

The scientists in Switzerland and Canada each 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 Matthias Baumgartner, a professor of metabolic diseases at 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."


'/>"/>

Contact: Matthias Baumgartner
matthias.baumgartner@kispi.uzh.ch
41-442-667-722
University of Zurich
Source:Eurekalert

Related biology news :

1. Vitamin B12 deficiency: Tracking the genetic causes
2. Vitamin D supplementation can decrease risk of respiratory infections in children
3. Iron, vitamins could affect physical fitness in adolescents
4. Lower vitamin D could increase risk of dying, especially for frail, older adults
5. Scientists confirm existence of vitamin deserts in the ocean
6. Obesity plus low vitamin D may add up to a greater risk of diabetes
7. Low vitamin D levels linked to weight gain in some older women
8. Link between vitamin C and twins can increase seed production in crops
9. 15th Vitamin D Workshop begins tomorrow
10. Vitamin D with calcium shown to reduce mortality in elderly
11. Health benefits of vitamin D dependent on type taken
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/23/2017)... and ITHACA, N.Y. , ... and Cornell University, a leader in dairy research, today ... bioinformatics designed to help reduce the chances that the ... the onset of this dairy project, Cornell University has ... for Sequencing the Food Supply Chain, a food safety ...
(Date:5/6/2017)... SINGAPORE , May 5, 2017 ... has just announced a new breakthrough in biometric ... that exploits quantum mechanical properties to perform ... new smart semiconductor material created by Ram Group ... across finance, entertainment, transportation, supply chains and security. ...
(Date:4/13/2017)... UBM,s Advanced Design and Manufacturing event in ... and evolving technology through its 3D Printing and Smart ... the expo portion of the event and feature a ... on trending topics within 3D printing and smart manufacturing. ... will take place June 13-15, 2017 at the Jacob K. ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... Tbilisi, Georgia (PRWEB) , ... October 11, 2017 , ... ... disaster, taking the lives of over 5.5 million people each year. Especially those living ... the greenovative startup Treepex - based in one of the most pollution-affected countries globally ...
(Date:10/10/2017)... ... October 10, 2017 , ... ... pharmaceutical company advancing targeted antibody-drug conjugate (ADC) therapeutics, today confirmed licensing rights ... (Hybrid Polymerized Liposomal Nanoparticle), a technology developed in collaboration with Children’s Hospital ...
(Date:10/10/2017)... , Oct. 10, 2017 SomaGenics announced the ... NIH to develop RealSeq®-SC (Single Cell), expected to be ... small RNAs (including microRNAs) from single cells using NGS ... the need to accelerate development of approaches to analyze ... "New techniques for measuring levels of mRNAs ...
(Date:10/9/2017)... ... October 09, 2017 , ... The award-winning American Farmer television series will ... American Farmer airs Tuesdays at 8:30aET on RFD-TV. , With global population estimates ... of how to continue to feed a growing nation. At the same time, many ...
Breaking Biology Technology: