Fragile X syndrome pathophysiology: Difference between revisions
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== Overview == | ==Overview== | ||
It is thought that Fragile X syndrome is caused by mutation in a gene, specifically [[FMR1]] gene present on X chromosome. The CGG triplet repetition leads to hypermethylation of the gene, which ultimately leads to silencing of the FMR1 gene. The FMR1 gene codes for [[protein]] responsible for [[brain]] development. Due to this defect, the normal neuron development is affected. | |||
== Pathophysiology == | ==Pathophysiology== | ||
Fragile x syndrome has an x-linked dominant inheritance. It is caused by an expansion of 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== | ||
{{ | <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> | ||
Latest revision as of 11:15, 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 mutation in a gene, specifically FMR1 gene present on X chromosome. The CGG triplet repetition leads to hypermethylation of the gene, which ultimately leads to silencing of the FMR1 gene. The FMR1 gene codes for protein responsible for brain development. Due to this defect, the normal neuron development is affected.
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.