The potential role of ribonucleic acid methylation in the pathological mechanisms of fragile X syndrome

Fragile X syndrome (FXS) is a common inherited cause of intellectual disabilities and single-gene cause of autism spectrum disorder (ASD), resulting from the loss of functional fragile X messenger ribonucleoprotein (FMRP), an RNA-binding protein (RBP) encoded by the fragile X messenger ribonucleopro...

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Bibliographic Details
Published in:Behavioural brain research 2023-08, Vol.452, p.114586-114586, Article 114586
Main Authors: Chen, Yu-Shan, Dong, Jing, Tan, Wei, Liu, Hui, Zhang, Si-Ming, Zou, Jia, Chen, Yi-Qi, Bai, Shu-Yuan, Zeng, Yan
Format: Article
Language:English
Subjects:
5-methylcytosine (m5C)
Fragile X syndrome
N6-methyladenosine (m6A)
RNA modification
RNA-binding protein
Synaptic function
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Summary:Fragile X syndrome (FXS) is a common inherited cause of intellectual disabilities and single-gene cause of autism spectrum disorder (ASD), resulting from the loss of functional fragile X messenger ribonucleoprotein (FMRP), an RNA-binding protein (RBP) encoded by the fragile X messenger ribonucleoprotein 1 (FMR1) gene. Ribonucleic acid (RNA) methylation can lead to developmental diseases, including FXS, through various mechanisms mediated by 5-hydroxymethylcytosine, 5-methylcytosine, N6-methyladenosine, etc. Emerging evidence suggests that modifications of some RNA species have been linked to FXS. However, the underlying pathological mechanism has yet to be elucidated. In this review, we reviewed the implication of RNA modification in FXS and summarized its specific characteristics for facilitating the identification of new therapeutic targets.
ISSN:0166-4328
1872-7549
DOI:10.1016/j.bbr.2023.114586