Frontiers in Aging Neuroscience (Jul 2023)
Evaluation of the role of FMR1 CGG repeat allele in Parkinson’s disease from the Chinese population
- Juan Chen,
- Juan Chen,
- Yuwen Zhao,
- Yuwen Zhao,
- Xun Zhou,
- Jin Xue,
- Qiao Xiao,
- Hongxu Pan,
- Xiaoxia Zhou,
- Yaqin Xiang,
- Jian Li,
- Liping Zhu,
- Zhou Zhou,
- Yang Yang,
- Qian Xu,
- Qiying Sun,
- Xinxiang Yan,
- Jieqiong Tan,
- Jinchen Li,
- Jinchen Li,
- Jinchen Li,
- Jifeng Guo,
- Jifeng Guo,
- Jifeng Guo,
- Jifeng Guo,
- Ranhui Duan,
- Beisha Tang,
- Beisha Tang,
- Beisha Tang,
- Beisha Tang,
- Qiao Yu,
- Zhenhua Liu,
- Zhenhua Liu,
- Zhenhua Liu,
- Zhenhua Liu
Affiliations
- Juan Chen
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Juan Chen
- Bioinformatics Center, National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Yuwen Zhao
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Yuwen Zhao
- Bioinformatics Center, National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Xun Zhou
- Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Jin Xue
- Centre for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China
- Qiao Xiao
- Centre for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China
- Hongxu Pan
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Xiaoxia Zhou
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Yaqin Xiang
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Jian Li
- Department of Nuclear Medicine, Xiangya Hospital, Central South University, Changsha, China
- Liping Zhu
- Department of Radiology, Xiangya Hospital, Central South University, Changsha, China
- Zhou Zhou
- Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Yang Yang
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Qian Xu
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Qiying Sun
- Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Xinxiang Yan
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Jieqiong Tan
- Centre for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China
- Jinchen Li
- Bioinformatics Center, National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Jinchen Li
- Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Jinchen Li
- Centre for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China
- Jifeng Guo
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Jifeng Guo
- Bioinformatics Center, National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Jifeng Guo
- Centre for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China
- Jifeng Guo
- Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, China
- Ranhui Duan
- Centre for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China
- Beisha Tang
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Beisha Tang
- Bioinformatics Center, National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Beisha Tang
- Centre for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China
- Beisha Tang
- Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, China
- Qiao Yu
- Department of Geriatrics, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Zhenhua Liu
- Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Zhenhua Liu
- Bioinformatics Center, National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha, Hunan, China
- Zhenhua Liu
- Centre for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China
- Zhenhua Liu
- Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan, China
- DOI
- https://doi.org/10.3389/fnagi.2023.1234027
- Journal volume & issue
-
Vol. 15
Abstract
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.
Keywords
