Mutation analysis of CHCHD2 gene in Chinese Han familial essential tremor patients and familial Parkinson's disease patients.
CHCHD2 is the latest identified Parkinson's disease (PD)-causing gene, and previous studies have reported the same CHCHD2 variant (182C>T, Thr61Ile) in both PD and essential tremor (ET) patients. Whether CHCHD2 gene mutations are involved in both of these diseases remains unclear. We sequenced CHCHD2 gene in 171 familial ET patients, 133 autosomal dominant Parkinson's disease patients, and 211 normal controls. No pathogenic mutations were found, suggesting that CHCHD2 gene may not play a major role in our familial Chinese Han ET and PD patients.
Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; School of Biomedical Engineering & Med-X Research Institute, Shanghai Jiao Tong University, Shanghai, China.
Chao
C
Gao
Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; Laboratory of Neurodegenerative Diseases, Institute of Health Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China.
Yi-Meng
YM
Chen
Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Qian
Q
Sun
Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Ya-Chao
YC
He
Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Pei
P
Huang
Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Tian
T
Wang
Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Dun-Hui
DH
Li
Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Liang
L
Liang
Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Jun
J
Liu
Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Qin
Q
Xiao
Department of Neurology and Collaborative Innovation Center for Brain Science, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China; School of Biomedical Engineering & Med-X Research Institute, Shanghai Jiao Tong University, Shanghai, China; Laboratory of Neurodegenerative Diseases, Institute of Health Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai, China. Electronic address: chen_sd@medmail.com.cn.
Sheng-Di
SD
Chen
D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D020329:Essential Tremor / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics*; D017422:Sequence Analysis, DNA; D014157:Transcription Factors / Q000235:genetics*
C580880:CHCHD2 protein, human; D004268:DNA-Binding Proteins; D024101:Mitochondrial Proteins; D014157:Transcription Factors
ADPD; CHCHD2; Chinese; Familial ET; Variants