Evaluation of the role of FMR1 CGG repeat allele in Parkinson’s disease from the Chinese population

Frontiers in Aging Neuroscience

Neuroscience

Jinchen Li¹  Qiao Xiao²  Jin Xue²  Ranhui Duan²  Jieqiong Tan²  Zhou Zhou³  Qiao Yu³  Xun Zhou³  Qiying Sun³  Yaqin Xiang⁴  Xiaoxia Zhou⁴  Qian Xu⁴  Xinxiang Yan⁴  Hongxu Pan⁴  Yang Yang⁴  Yuwen Zhao⁵  Juan Chen⁵  Zhenhua Liu⁶  Beisha Tang⁶  Jifeng Guo⁶  Jian Li⁷  Liping Zhu⁸ 

[1] Bioinformatics Center, National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China;Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China;Centre for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China;Centre for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China;Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China;Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China;Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China;Bioinformatics Center, National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China;Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China;Bioinformatics Center, National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China;Centre for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China;Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, China;Department of Nuclear Medicine, Xiangya Hospital, Central South University, Changsha, China;Department of Radiology, Xiangya Hospital, Central South University, Changsha, China;

关键词: FMR1;    CGG repeat;    Parkinson’s disease;    premutation;    gray zone;   

DOI  :  10.3389/fnagi.2023.1234027

 received in 2023-06-03, accepted in 2023-07-11,  发布年份 2023

来源: Frontiers

【 摘 要 】

ObjectiveThere is controversial evidence that FMR1 premutation or “gray zone” (GZ) allele (small CGG expansion, 45–54 repeats) was associated with Parkinson’s disease (PD). We aimed to explore further the association between FMR1 CGG repeat expansions and PD in a large sample of Chinese origin.MethodsWe included a cohort of 2,362 PD patients and 1,072 controls from the Parkinson’s Disease and Movement Disorders Multicenter Database and Collaborative Network in China (PD-MDCNC) in this study and conducted repeat-primed polymerase chain reaction (RP-PCR) for the size of FMR1 CGG repeat expansions.ResultsTwo PD patients were detected with FMR1 premutation (61 and 56 repeats), and the other eleven PD patients were detected with the GZ allele of FMR1 CGG repeat expansions. Those thirteen PD patients responded well to levodopa and were diagnosed with clinically established PD. Specifically, one female PD patient with GZ allele was also found with premature ovarian failure. However, compared to healthy controls, we found no significant enrichment of GZ allele carriers in PD patients or other subgroups of PD cases, including the subgroups of female, male, early-onset, and late-onset PD patients. Furthermore, we did not find any correlation between the FMR1 gene CGG repeat sizes and age at onset of PD.ConclusionIt suggested that FMR1 premutation was related to PD, but the GZ allele of FMR1 CGG repeat expansions was not significantly enriched in PD cases of Chinese origin. Further larger multiple ethnic studies are needed to determine further the role of the FMR1 GZ allele in PD.

【 授权许可】

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Copyright © 2023 Chen, Zhao, Zhou, Xue, Xiao, Pan, Zhou, Xiang, Li, Zhu, Zhou, Yang, Xu, Sun, Yan, Tan, Li, Guo, Duan, Tang, Yu and Liu.