TMEM230 mutation analysis in Parkinson's disease in a Chinese population.
Mutations in TMEM230 were identified as a genetic factor for Parkinson's disease (PD) with typical clinical symptoms and Lewy bodies in a North American population, and a highly prevalent TMEM230 mutation, c.550_552delTAGinsCCCGGG (p.*184ProGlyext*5), was found in 7 Chinese families. In the present study, we investigated the prevalence of TMEM230 mutations in a large cohort of Chinese PD patients and healthy controls individuals from mainland China. We sequenced all exons and exon-intron boundaries of TMEM230 in Chinese Han population including 1235 patients with PD and 1252 healthy control individuals. As a result, we did not detect any pathogenic mutation of TMEM230 in 192 probands with familial PD or 1043 sporadic PD patients. However, we did detect a synonymous variant c.357G>A p.Gly119Gly in a case of familial PD and the 3' UTR+3G>T variant in 2 sporadic PD patients. These results suggested that TMEM230 mutation may not be a common genetic factor for Chinese familial and sporadic PD patients.
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Weiqian
W
Yan
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China; State Key Laboratory of Medical Genetics, Changsha, Hunan, China; National Clinical Research Center for Geriatrics, Changsha, Hunan, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Changsha, Hunan, China; Parkinson's Disease Center of Beijing Institute for Brain Disorders, Beijing, China; Collaborative Innovation Center for Brain Science, Shanghai, China.
Beisha
B
Tang
Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Xiaoxia
X
Zhou
Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, China.
Lifang
L
Lei
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Kai
K
Li
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Qiying
Q
Sun
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Qian
Q
Xu
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
Xinxiang
X
Yan
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China. Electronic address: guojifeng2003@163.com.
Jifeng
J
Guo
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China. Electronic address: liuzhenhua2503@163.com.
Zhenhua
Z
Liu
D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D015995:Prevalence
D008565:Membrane Proteins; C000622360:TMEM230 protein, human
Chinese; Mutation; Parkinson's disease; TMEM230