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Start Over Author "Ren, Ru-Jing" Publisher ios press
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4. Mutation Screening of the CHCHD2 Gene for Alzheimer's Disease and Frontotemporal Dementia in Chinese Mainland Population.

Author

Xiang-Qian Che, Qian-Hua Zhao, Yue Huang, Xia Li, Ru-Jing Ren, Sheng-Di Chen, Qi-Hao Guo, Gang Wang, Che, Xiang-Qian, Zhao, Qian-Hua, Huang, Yue, Li, Xia, Ren, Ru-Jing, Chen, Sheng-Di, Guo, Qi-Hao, and Wang, Gang

Subjects
GENETICS of Alzheimer's disease, DEMENTIA, ALZHEIMER'S patients, DEMENTIA patients, NEURODEGENERATION, MITOCHONDRIA, GENETICS, ALZHEIMER'S disease, ASIANS, COMPARATIVE studies, GENETIC techniques, RESEARCH methodology, MEDICAL cooperation, GENETIC mutation, PROTEINS, RESEARCH, TRANSCRIPTION factors, EVALUATION research, CASE-control method, FRONTOTEMPORAL dementia
Abstract

As an important multifunctional protein involved in regulation of mitochondrial metabolism, CHCHD2 was identified as a causative gene for Parkinson's disease (PD), yet the relationship between CHCHD2 and neurodegenerative dementia is not well understood. We directly sequenced the entire coding region of CHCHD2 gene in 150 AD patients, 84 FTD patients, and 417 controls. Four rare putative pathogenic variants of CHCHD2, including rs142444896 (c.5C>T, p.P2L), rs752705344 (c.15C>G, p.S5R), rs145190179 (c.94G>A, p.A32T), and rs182992574 (c.255T>A, p.S85R) were identified from a cohort composed of 150 AD and 84 FTD patients. These results suggest that CH CHD2 gene play an important role in other neurodegenerative disorders from our dementia study in China. [ABSTRACT FROM AUTHOR]

Published
2018
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