Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS

摘要

VPS54 is a component of the Golgi-associated retrograde protein (GARP) complex of vesicle sorting proteins. A missense mutation of Vps54 is responsible for motor neuron disease in the wobbler mouse, but the human gene on chromosome 2p14-15 has not been evaluated as a disease gene. We completely sequenced the 22 coding exons from 96 individuals with sporadic ALS, 96 individuals with familial ALS, and 96 controls. Twenty-one novel SNPs were identified. The nonsynonymous variant, T360A, was observed in one patient and 0/910 controls. Several polymorphic non-synonymous SNPswere also observed in patients and controls. These initial data suggest that mutations in VPS54 are not a major cause of ALS.