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

Amyotroph Lateral Scler. 2008 Jun;9(3):141-8. doi: 10.1080/17482960801934403.


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 non-synonymous variant, T360A, was observed in one patient and 0/910 controls. Several polymorphic non-synonymous SNPs were also observed in patients and controls. These initial data suggest that mutations in VPS54 are not a major cause of ALS.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / physiopathology
  • Exons / genetics
  • Female
  • Genetic Predisposition to Disease
  • Golgi Apparatus / physiology*
  • Humans
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide*
  • RNA Splice Sites / genetics
  • Vesicular Transport Proteins / genetics*
  • Vesicular Transport Proteins / metabolism


  • RNA Splice Sites
  • VPS54 protein, human
  • Vesicular Transport Proteins