Abstract
Fragile X syndrome (FXS) is one of the most common forms of hereditary intellectual disability. It is also a well-known monogenic cause of autism spectrum disorders (ASD). Repetitive trinucleotide expansion of CGG repeats in the 5′-UTR of FMR1 is the pathological mutation. Full mutation CGG repeats epigenetically silence FMR1 and thus lead to the absence of its product, fragile mental retardation protein (FMRP), which is an indispensable translational regulator at synapsis. Loss of FMRP causes abnormal neural morphology, dysregulated protein translation, and distorted synaptic plasticity, giving rise to FXS phenotypes. Non-coding RNAs, including siRNA, miRNA, and lncRNA, are transcribed from DNA but not meant for protein translation. They are not junk sequence but play indispensable roles in diverse cellular processes. FXS is the first neurological disorder being linked to miRNA pathway dysfunction. Since then, insightful knowledge has been gained in this field. In this review, we mainly focus on how non-coding RNAs, especially the siRNAs, miRNAs, and lncRNAs, are involved in FXS pathogenesis. We would also like to discuss several potential mechanisms mediated by non-coding RNAs that may be shared by FXS and other related disorders.
Highlights
Non-coding RNA is a kind of transcript from DNA but not meant for protein translation
Functional molecules classified into this category have included micro-RNA, long non-coding RNA, small-interfering RNA, transfer RNA, ribonucleoprotein RNA, and piwi- interacting RNA, etc. (Cao et al, 2006; Beermann et al, 2016; Treiber et al, 2018)
We mainly focus on how non-coding RNAs, especially the small-interfering RNA (siRNA), miRNAs, and long non-coding RNA (lncRNA), are involved in Fragile X syndrome (FXS) pathogenesis
Summary
Syndrome and Converging Mechanisms Shared by Related Disorders. Front. Fragile X syndrome (FXS) is one of the most common forms of hereditary intellectual disability It is a well-known monogenic cause of autism spectrum disorders (ASD). Full mutation CGG repeats epigenetically silence FMR1 and lead to the absence of its product, fragile mental retardation protein (FMRP), which is an indispensable translational regulator at synapsis. Non-coding RNAs, including siRNA, miRNA, and lncRNA, are transcribed from DNA but not meant for protein translation. They are not junk sequence but play indispensable roles in diverse cellular processes. We would like to discuss several potential mechanisms mediated by non-coding RNAs that may be shared by FXS and other related disorders
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