Homotypic fusion and vacuole protein sorting complex genes and pathogenesis of genetic dystonia

Takeaway

  • Homotypic fusion and vacuole protein sorting (HOPS) complex genes VPS16 and VPS41 are associated with dystonia pathogenesis.

Why this matters ?

    After whole-genome sequencing, over 85% of people with suspected genetic dystonia remain undiagnosed, suggesting that several causative genes have yet to be recognized. This analysis provides the first evidence of a role for the HOPS complex genes VPS16 and VPS41, thus identifying a new pathway in dystonia pathogenesis worthy of future research.