Mutation Screening of the CHCHD2 Gene for Alzheimer’s Disease and Frontotemporal Dementia in Chinese Mainland Population

Article type: Short Communication

Authors: Che, Xiang-Qian^{a; 1} | Zhao, Qian-Hua^{b; 1} | Huang, Yue^{c; 1} | Li, Xia^d | Ren, Ru-Jing^a | Chen, Sheng-Di^{a; *} | Guo, Qi-Hao^{b; *} | Wang, Gang^{a; *}

Affiliations: [a] Department of Neurology and Neuroscience Institute, Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China | [b] Department of Neurology and Institute of Neurology, Huashan Hospital, Fudan University, WHO Collaborating Center for Research and Training in Neurosciences, Shanghai, China | [c] School of Medical Sciences, Faculty of Medicine, University of New South Wales, Sydney, Australia | [d] Alzheimer’s Disease and Related Disorders Center, Shanghai Mental Health Center, Department of Geriatric Psychiatry, Shanghai Jiao Tong University School of Medicine, Shanghai, China

Correspondence: [*] Correspondence to: Dr. Gang Wang and Dr. Sheng-Di Chen, Department of Neurology and Neuroscience Institute, Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China. E-mail: [email protected] (Gang Wang); [email protected] (Sheng-Di Chen) and Dr. Qi-Hao Guo, Department of Neurology and Institute of Neurology, Huashan Hospital, Fudan University, WHO Collaborating Center for Research and Training in Neurosciences, Shanghai, China. E-mail: [email protected].

Note: [1] These authors contributed equally to this work.

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 the CHCHD2 gene may an important role in other neurodegenerative disorders from our dementia study in China.

Keywords: Alzheimer’s disease, CHCHD2, dementia, frontotemporal dementia

DOI: 10.3233/JAD-170692

Journal: Journal of Alzheimer's Disease, vol. 61, no. 4, pp. 1283-1288, 2018