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Mutational analysis of the VCP gene in Parkinson's disease.

ABSTRACT: Mutations in the valosin-containing protein gene (VCP) have been identified in neurological disorders (inclusion body myopathy--early Paget's disease of the bone--frontotemporal dementia and amyotrophic lateral sclerosis) and are thought to play a role in the clearance of abnormally folded proteins. Parkinsonism has been noted in kindreds with VCP mutations. Based on this, we hypothesized that mutations in VCP may also contribute to idiopathic Parkinson's disease (PD). We screened the coding region of the VCP gene in a large cohort of 768 late-onset PD cases (average age at onset, 70 years), both sporadic and with positive family history. We identified a number of rare single nucleotide changes, including a variant previously described to be pathogenic, but no clear disease-causing variants. We conclude that mutations in VCP are not a common cause for idiopathic PD.

SUBMITTER: Majounie E

PROVIDER: S-EPMC3221929 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature

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Mutational analysis of the VCP gene in Parkinson's disease.

Majounie Elisa E Traynor Bryan J BJ Chiò Adriano A Restagno Gabriella G Mandrioli Jessica J Benatar Michael M Taylor J Paul JP Singleton Andrew B AB

Neurobiology of aging 20110913 1

Mutations in the valosin-containing protein gene (VCP) have been identified in neurological disorders (inclusion body myopathy--early Paget's disease of the bone--frontotemporal dementia and amyotrophic lateral sclerosis) and are thought to play a role in the clearance of abnormally folded proteins. Parkinsonism has been noted in kindreds with VCP mutations. Based on this, we hypothesized that mutations in VCP may also contribute to idiopathic Parkinson's disease (PD). We screened the coding reg ...[more]

PMID: 21920633

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