Open AccessMutation Analysis of COQ 2 in Chinese Patients with Cerebellar Subtype of Multiple System Atrophy
Author(s) -
Wen XiaoDan,
Li HongFu,
Wang HongXia,
Ni Wang,
Dong Yi,
Wu ZhiYing
Publication year - 2015
Publication title -
cns neuroscience and therapeutics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.403
H-Index - 69
eISSN - 1755-5949
pISSN - 1755-5930
DOI - 10.1111/cns.12412
Subject(s) - missense mutation , parkinsonism , sanger sequencing , atrophy , mutation , genetics , biology , medicine , gene , disease
Summary Aims Recently, mutations in COQ 2 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 COQ 2 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 COQ 2 mutations and MSA ‐C in Chinese patients. Methods A Chinese cohort of 116 patients with MSA ‐C and 192 healthy control individuals were recruited. Sanger sequencing of COQ 2 was performed in all these subjects. Results 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. Conclusion Our results indicated that COQ 2 tended to play a population‐specific and subtype‐depended role in conferring susceptibility to MSA .