VCP as a cause of ALS

als_assoc_logoDr. Benatar and colleagues at NIH (Dr. Traynor), Italy (Dr. Chio) and St. Jude’s hospital (Dr. Taylor) recently identified mutations in the VCP (valosin-containing protein) gene as a cause of familial ALS. The ALS Association has since awarded Dr. Benatar and Dr. Taylor a grant to further study the relationship between VCP and ALS. Read more …

Mutations in VCP have previously been described in another degenerative disorder known as IBMPFD (inclusion body myopathy with Paget’s disease and fronto-temporal dementia). VCP plays a central role in what is known as the ‘ubiquitin-protein’ degradation pathway, the natural cellular “waste disposal” system. VCP is also important in a wide range of cellular processes and we don’t yet know for sure which of these are disrupted by the mutations we’ve identified in VCP. Better understanding of the specific VCP functions that are impaired in the context of ALS and characterizing the overlap in dysfunction that results from mutations in VCP, FUS and TDP-43 promises to provide important insight into ALS pathogenesis.