Vitamin B12 is essential for human health. The human body is unable to produce the vitamin, so you have to get it from animal foods such as dairy products, eggs, red meat, chicken, seafood, or through vitamin supplements. Vitamin B12 is not found in plants in quantities actually usable.
Some people suffer from hereditary diseases that make them unable to process vitamin B12. Consequently, they are prone to serious health problems, including developmental delay, stroke, psychosis, and dementia in general.
By identifying a gene that is vital for the transport of vitamins into the body cells, an international team of researchers recently discovered a new genetic disease related to vitamin B12 deficiency.
This discovery, made by the team of Dr. David Rosenblatt, from the Central Research Institute of McGill University Health Centre in Canada, will help doctors diagnose this rare genetic disorder, and open the door to new treatments.
The finding also serve to help explain how vitamin B12 in the body.
The new study is another step in a research driven in a previous study by the same team of McGill University, and colleagues in Switzerland, Germany and the United States. In that previous work, researchers found that vitamin B12 enters our cells through a specific carrier protein.
A result of the work in this line of research is the discovery of a new gene; ABCD4 associated with the transport of vitamin B12 and is involved in the recently identified genetic disease.
Applying innovative sequencing technology to the genetic information of patients, scientists identified two mutations in the same gene ABCD4, in the two patients studied.
The research has been also worked by Dr. Matthias Baumgartner, Children’s Hospital affiliated with the University of Zurich in Switzerland.