Epigenetic alteration of a vitamin B12 gene shines new light on our understanding of rare diseases

(McGill University Health Centre) French and Canadian scientists discovered a new cause of a rare condition known as cblC, that they named 'epi-cblC,' resulting from a mutation on a single copy of the gene and the silencing of the second copy by a gene modification referred to as epimutation. Their findings may have an impact on diagnosis, and genetic counselling in families with genetic diseases, as well as in the development of new therapeutic approaches.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news