Mutation Analysis of   COQ 2  in Chinese Patients with Cerebellar Subtype of Multiple System Atrophy | Zendy

Wen XiaoDan | Zendy; Li HongFu | Zendy; Wang HongXia | Zendy; Ni Wang | Zendy; Dong Yi | Zendy; Wu ZhiYing | Zendy

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Mutation 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 , mutation , atrophy , genetics , chinese population , cerebellar ataxia , medicine , biology , genotype , gene , ataxia , neuroscience , 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 .

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