Mutation Analysis of COQ2 in Chinese Patients with Cerebellar Subtype of Multiple System Atrophy. (20th June 2015)

• Record Type: Journal Article
• Authors: Wen, Xiao‐Dan; Li, Hong‐Fu; Wang, Hong‐Xia; Ni, Wang; Dong, Yi; Wu, Zhi‐Ying
• Is Part Of: CNS neuroscience & therapeutics. Volume 21:Number 8(2015)
• Page Start: 626
• Page End: 630
• Publication Date: 2015-06-20
• Subjects: Neuropharmacology -- Periodicals; Central nervous system -- Diseases -- Effect of drugs on -- Periodicals; 612.8
• DOI: 10.1111/cns.12412
• Languages: English
• ISSNs: 1755-5930

Abstract

<abstract abstract-type="main" id="cns12412-abs-0001"> <title>Summary</title> <sec id="cns12412-sec-0001" sec-type="section"> <title>Aims</title> <p>Recently, mutations in <italic>COQ2</italic> encoding para‐hydroxybenzoate‐polyprenyl transferase have been identified to increase the risk of multiple system atrophy (MSA) in multiplex families and sporadic cases. The prevalence of <italic>COQ2</italic> mutations was showed to be higher in cerebellar subtype (MSA‐C) than parkinsonism subtype (MSA‐P). The aim of this study was to investigate the association between <italic>COQ2</italic> mutations and MSA‐C in Chinese patients.</p> </sec> <sec id="cns12412-sec-0002" sec-type="section"> <title>Methods</title> <p>A Chinese cohort of 116 patients with MSA‐C and 192 healthy control individuals were recruited. Sanger sequencing of <italic>COQ2</italic> was performed in all these subjects.</p> </sec> <sec id="cns12412-sec-0003" sec-type="section"> <title>Results</title> <p>Two missense mutations (p.L402F and p.R173H) and one synonymous mutation (p.A32A) were detected in 3 patients, respectively. They were not found in the 192 controls as well as the 1000 Genomes Database. The p.L402F and p.A32A were novel.</p> </sec> <sec id="cns12412-sec-0004" sec-type="section"> <title>Conclusion</title> <p>Our results indicated that <italic>COQ2</italic> tended to play a population‐specific and subtype‐depended role in conferring susceptibility to MSA.</p> </sec> </abstract>