Cause and Effect

Doctors and researchers are working on tracking down the scientific and genetic reasons for Vitamin B 12 deficiency in people, the findings of which have been recently published in an international study

Vitamin B 12 is one of the more essential vitamins that is a pre-requisite for good health. Also called cobalamin, it 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, shellfish and vitamin supplements. Vitamin B 12 is not found in vegetables. However, some people have inherited conditions that leave them unable to process vitamin B 12. 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 B 12 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 B 12 deficiency," says Dr David Rosenblatt, one of the study's co-authors, a scientist in medical genetics and genomics at the Research Institute of the McGill University Health Centre (RI MUHC), Canada, Dodd Q Chu, 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 B 12 is handled by the body," he adds.

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