Fragile X Syndrome: Epigenetics marks in the Therapy
European Journal of Molecular & Clinical Medicine,
2020, Volume 7, Issue 7, Pages 7048-7055
AbstractFragile X syndrome (FXS) occurs due to the absence of expression of the fragile X intellectual retardation protein and it is an inherited syndrome. FXS is the monogenic form which involves a single gene, or we can say that one of the intellectual disabilities and generally called the most important reason for autism. The main cause of FXS is the deficiency of an RNA-binding protein known as Fragile X Mental Retardation Protein (FMRP). This RNA-binding protein is encrypted by the gene called Fragile X Mental Retardation Gene 1 (FMR1) gene. Multiple roles have been assigned to this protein including shipping of the RNA to translational management of mRNAs. FMRP is the protein that helps the dispatch and translation of lots of mind mRNAs by modulating an activity-based etiquette. Due to the lack of this RNA-binding protein, highbrow disability occurs which is a result of disorganization of a couple of neuronal pathways. In the present scenario, FXS efficient treatment is not available. Here in this paper, we are discussing the FMR1 gene recovery as a probable advance toward the diagnosis of FXS and pressurize on the small molecules which suppresses essential pathways for silencing of a gene which leads to the success in treating FMR1 gene allied disabilities. In conclusion, the therapeutic techniques which have visible foremost success in FXS using genetic and epigenetic manner. There is first-rate progress in basic, preclinical, and translational clinical studies that has explained a lot of molecular, cellular, and system-degree defects in FRAXA which has led to the discovery of some encouraging therapeutic techniques and analysis of this syndrome.
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