Screening for VPS35 mutations in Parkinson's disease

NEUROBIOLOGY OF AGING

卷:33

Article

Sheerin, Una-Marie¹  Charlesworth, Gavin¹  Bras, Jose¹  Guerreiro, Rita¹  Bhatia, Kailash²  Foltynie, Thomas²  Limousin, Patricia³  Silveira-Moriyama, Laura⁴  Lees, Andrew⁵  Wood, Nicholas^1,6 

[1] UCL Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England

[2] UCL Inst Neurol, Dept Motor Neurosci, London WC1N 3BG, England

[3] UCL Inst Neurol, Unit Funct Neurosurg, Sobell Dept, London WC1N 3BG, England

[4] UCL Inst Neurol, Reta Lila Weston Trust Med Res, London WC1N 3BG, England

[5] UCL Inst Neurol, Queen Sq Brain Bank Neurol Disorders, London WC1N 3BG, England

[6] UCL, UCL Genet Inst, London, England

关键词: Parkinson's disease;    Genetics;    VPS35;    Population screening;   

DOI  :  10.1016/j.neurobiolaging.2011.10.032

来源: Elsevier

【 摘 要 】

Recently 2 groups have independently identified a mutation in the gene 'vacuolar protein sorting 35 homolog' (VPS35 c.1858G>A; p.Asp620Asn) as a possible cause of autosomal dominant Parkinson's disease (PD). In order to assess the frequency of the reported mutation and to search for other possible disease-causing variants in this gene, we sequenced all 17 exons of VPS35 in 96 familial PD cases, and exon 15 (in which the reported mutation is found) in an additional 64 familial PD cases, 175 young-onset PD cases, and 262 sporadic, neuropathologically confirmed PD cases. We identified 1 individual with the p.Asp620Asn mutation and an autosomal dominant family history of PD. Subsequent follow-up of the family confirmed an affected sibling and cousin who also carried the same mutation. No other potentially disease-causing mutations were identified. We conclude that the VPS35 c.1858G>A mutation is an uncommon cause of familial Parkinson's disease in our population. (C) 2012 Elsevier Inc. All rights reserved.

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