Fragile X syndrome pathophysiology: Difference between revisions
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==Pathophysiology== | ==Pathophysiology== | ||
Fragile x syndrome has an [[x-linked]] [[Dominant allele|dominant]] [[inheritance]]. It is caused by an expansion of [[Trinucleotide repeat disorder|CGG trinucleotide]] repeat within FMR1 gene on X chromosome. Due to high number of CGG repeats (>200), this leads to [[methylation]] of part of [[gene]] on X [[chromosome]] that codes for Fragile X Mental retardation protein ([[FMRP]]), which is required for proper development of connections between [[neurons]]. | Fragile x syndrome has an [[x-linked]] [[Dominant allele|dominant]] [[inheritance]]. It is caused by an expansion of [[Trinucleotide repeat disorder|CGG trinucleotide]] repeat within 5' UTR in FMR1 gene on X chromosome. Due to high number of CGG repeats (>200), this leads to [[methylation]] of part of [[gene]] on X [[chromosome]] that codes for Fragile X Mental retardation protein ([[FMRP]]), which is required for proper development of connections between [[neurons]]. | ||
==References== | ==References== | ||
Revision as of 11:03, 16 September 2021
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
It is thought that Fragile X syndrome is caused by changes in a gene, specifically FMR1 gene. The FMR1 gene codes for protein responsible for brain development.
Pathophysiology
Fragile x syndrome has an x-linked dominant inheritance. It is caused by an expansion of CGG trinucleotide repeat within 5' UTR in FMR1 gene on X chromosome. Due to high number of CGG repeats (>200), this leads to methylation of part of gene on X chromosome that codes for Fragile X Mental retardation protein (FMRP), which is required for proper development of connections between neurons.