Mutations in COQ2 in Familial and Sporadic Multiple System Atrophy

Researchers from the Multiple System Atrophy (MSA) Research Collaborative in Japan just published online in the New England Journal of Medicine findings providing evidence that functionally impaired variants of the COQ2 gene (involved in the biosynthetic pathway for coenzyme Q10) are associated with an increased risk of developing MSA. This group previously identified multiplex families with MSA, indicating a genetic component in a disease that had previously been considered a non-genetic disorder.
Source: neuropathology blog - Category: Pathologists Tags: multiple system atrophy Source Type: blogs