Liangqun Xie, Huiying Li, MengLiang Xiao, Ningjing Chen, Xiaoxiao Zang, Yingying Liu, Hong Ye, Chaogang Tang
Author Information
Liangqun Xie: The Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai, China.
Huiying Li: Department of Obstetrics and Gynecology, The First College of Clinical Medical Science, Yichang Central People's Hospital, Three Gorges University, Yichang, Hubei, China.
MengLiang Xiao: Department of Obstetrics and Gynecology, The First College of Clinical Medical Science, Yichang Central People's Hospital, Three Gorges University, Yichang, Hubei, China.
Ningjing Chen: Department of Obstetrics and Gynecology, The First College of Clinical Medical Science, Yichang Central People's Hospital, Three Gorges University, Yichang, Hubei, China.
Xiaoxiao Zang: The Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai, China.
Yingying Liu: Department of Obstetrics and Gynecology, The First College of Clinical Medical Science, Yichang Central People's Hospital, Three Gorges University, Yichang, Hubei, China.
Hong Ye: Department of Obstetrics and Gynecology, The First College of Clinical Medical Science, Yichang Central People's Hospital, Three Gorges University, Yichang, Hubei, China.
Chaogang Tang: The Fifth Affiliated Hospital of Sun Yat-sen University, Zhuhai, China.
Fragile X Syndrome (FXS) is a genetic neurodevelopmental disorder closely associated with intellectual disability and autism spectrum disorders. The core of the disease lies in the abnormal expansion of the CGG trinucleotide repeat sequence at the 5'end of the FMR1 gene. When the repetition exceeds 200 times, it causes the silencing of the FMR1 gene, leading to the absence of the encoded Fragile X mental retardation protein 1 (FMRP). Although the detailed mechanism by which the CGG repeat expansion triggers gene silencing is yet to be fully elucidated, it is known that this process does not alter the promoter region or the coding sequence of the FMR1 gene. This discovery provides a scientific basis for the potential reversal of FMR1 gene silencing through interventional approaches, thereby improving the symptoms of FXS. Epigenetics, a mechanism of genetic regulation that does not depend on changes in the DNA sequence, has become a new focus in FXS research by modulating gene expression in a reversible manner. The latest progress in molecular genetics has revealed that epigenetics plays a key role in the pathogenesis and pathophysiological processes of FXS. This article compiles the existing research findings on the role of epigenetics in Fragile X Syndrome (FXS) with the aim of deepening the understanding of the pathogenesis of FXS to identify potential targets for new therapeutic strategies.
