Aims: Recently, mutations in COQ2 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 COQ2 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 COQ2 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 COQ2 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 COQ2 tended to play a population-specific and subtype-depended role in conferring susceptibility to MSA.
Keywords: COQ2 variants; Chinese; Multiple system atrophy; Mutation analysis.
© 2015 John Wiley & Sons Ltd.