Fragile X syndrome pathophysiology: Difference between revisions
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<ref name="pmid17477822">{{cite journal| author=Penagarikano O, Mulle JG, Warren ST| title=The pathophysiology of fragile x syndrome. | journal=Annu Rev Genomics Hum Genet | year= 2007 | volume= 8 | issue= | pages= 109-29 | pmid=17477822 | doi=10.1146/annurev.genom.8.080706.092249 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17477822 }} </ref> | |||
Revision as of 11:05, 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.
References
- ↑ Penagarikano O, Mulle JG, Warren ST (2007). "The pathophysiology of fragile x syndrome". Annu Rev Genomics Hum Genet. 8: 109–29. doi:10.1146/annurev.genom.8.080706.092249. PMID 17477822.