The potential role of ribonucleic acid methylation in the pathological mechanisms of fragile X syndrome
- PMID: 37467965
- DOI: 10.1016/j.bbr.2023.114586
The potential role of ribonucleic acid methylation in the pathological mechanisms of fragile X syndrome
Abstract
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.
Keywords: 5-methylcytosine (m(5)C); Fragile X syndrome; N(6)-methyladenosine (m(6)A); RNA modification; RNA-binding protein; Synaptic function.
Copyright © 2023 Elsevier B.V. All rights reserved.
Conflict of interest statement
Declaration of Competing Interest The authors declared no conflict of interest.
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