Mutation Screening of the CHCHD2 Gene for Alzheimer's Disease and Frontotemporal Dementia in Chinese Mainland Population
| Autor: | Gang Wang, Yue Huang, Qianhua Zhao, Qihao Guo, Xiang-Qian Che, Xia Li, Sheng-Di Chen, Ru-Jing Ren |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Male China Population Disease Mitochondrial Proteins 03 medical and health sciences 0302 clinical medicine Asian People Alzheimer Disease medicine Coding region Dementia Humans education Gene Genetic Association Studies Aged Genetics Aged 80 and over education.field_of_study business.industry General Neuroscience General Medicine Middle Aged medicine.disease DNA-Binding Proteins Psychiatry and Mental health Clinical Psychology 030104 developmental biology CHD2 Case-Control Studies Frontotemporal Dementia Cohort Mutation Female Geriatrics and Gerontology business 030217 neurology & neurosurgery Frontotemporal dementia Transcription Factors |
| Zdroj: | Journal of Alzheimer's disease : JAD. 61(4) |
| ISSN: | 1875-8908 1424-4489 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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