The molecular basis of the Fragile X syndrome

Harem Othman smail

doi:10.47743/jemb-2023-80

Authors

Harem Othman smail koya university

DOI:

https://doi.org/10.47743/jemb-2023-80

Keywords:

X-linked intellectual, FMR-1 triplet expansion region, RNA-binding protein, X mutation, DNA methylation, and Gene therapy

Abstract

This analysis aimed to clarify the molecular basis of fragile X syndrome and explain the role of genetic material in the genetic disease's development and treatment. Fragile X syndrome is an X-linked mutation inheritance disorder. The mutated gene is called FMR-1. This is important for normal brain development and synaptic plasticity, which was verified and recognized in 1991, and this has become a hope for more clarification. FMR1 influences the translation of messenger RNA (mRNA), but identifying functional targets was complex and directly related to translational control and showed that dysregulated translation initiation signaling was observed for the FMR1 gene in the FMR1 knockout mouse model of FXS.

Because of the epigenetic alteration, such as hypermethylated at the DNA promoter region, and chromatin modification, such as H3K9 methylation, the FMR1 gene can be imprinted. Still, their mechanisms of aberrant epigenetic marks play a role in the etiology of many neurodevelopmental disorders, some of which we still do not fully understand and need to show more. The opportunities for epigenetic markers to map and alter epigenetic marks and the potential for therapies based on epigenetics and noncoding manipulation. For neurodevelopmental and behavioral conditions, including mental retardation, autism, anxiety, and mood disturbance, FMR1 loss of control is a model.

Most studies have focused on the new and effective approach for Fragile X syndrome, which is Gene therapy is unarguably the definitive way to treat and possibly cure genetic diseases. Many of them are under clinical trial, but more studies, such as the CRISPR/Cas9-based method, should be approved. Adeno-associated viral (AAV) vectors are highly effective for generating models. Most research is used in the mouse model of fragile X syndrome, where AAVs have been used to express fragile X mental retardation protein (FMRP), which is missing or highly reduced in the disorder. The vast expansions need southern blotting in myotonic dystrophy. Fragile X is diagnosed by a form of Southern blotting that relies on the size and the FRAXA gene's methylation status. Almost always, genetic testing is performed by PCR. The few Southern blotting uses include checking for significant destructive gene rearrangements and complete mutations of fragile X and myotonic dystrophy. Expansions suppress the expression of closely adjacent genes, causing loss of function. A named FMRI (fragile-X mental retardation syndrome) gene cDNA probe. Some unique molecular mechanisms, such as CGG expansion in Fragile-X syndrome, can make a particular sequence change in a gene far more probable than any other change.

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