Ataxia telangiectasia epidemiology and demographics: Difference between revisions
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== Epidemiology and | == Epidemiology and Demographics == | ||
Ataxia- | Epidemiology: | ||
Ataxia-Telangiectasia prevalence is estimated between 1 in 40,000 and 1 in 100,000.<ref name="pmid27884168">{{cite journal| author=Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM| title=Ataxia telangiectasia: a review. | journal=Orphanet J Rare Dis | year= 2016 | volume= 11 | issue= 1 | pages= 159 | pmid=27884168 | doi=10.1186/s13023-016-0543-7 | pmc=5123280 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27884168 }} </ref> | |||
Some studies have shown that the prevalence of A-T among adults younger than age 50 is approximately 1 in 500,000. Some mutations are more common than others is certain geographical regions for example, the 7636del9 mutation is a common mutation in European populations which has been shown to increase the risk of breast cancer in carriers. | |||
Etiology: | |||
Ataxia-Telangiectasia is caused by mutations in the ATM (Ataxia Telangiectasia, Mutated) gene which encodes a protein of the same name. The primary role of the ATM protein is coordination of cellular signaling pathways in response to DNA double strand breaks, oxidative stress and other genotoxic stress. | |||
== References == | == References == | ||
{{reflist|2}} | {{reflist|2}} | ||
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Latest revision as of 16:39, 24 July 2021
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Epidemiology and Demographics
Epidemiology: Ataxia-Telangiectasia prevalence is estimated between 1 in 40,000 and 1 in 100,000.[1] Some studies have shown that the prevalence of A-T among adults younger than age 50 is approximately 1 in 500,000. Some mutations are more common than others is certain geographical regions for example, the 7636del9 mutation is a common mutation in European populations which has been shown to increase the risk of breast cancer in carriers.
Etiology: Ataxia-Telangiectasia is caused by mutations in the ATM (Ataxia Telangiectasia, Mutated) gene which encodes a protein of the same name. The primary role of the ATM protein is coordination of cellular signaling pathways in response to DNA double strand breaks, oxidative stress and other genotoxic stress.
References
- ↑ Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM (2016). "Ataxia telangiectasia: a review". Orphanet J Rare Dis. 11 (1): 159. doi:10.1186/s13023-016-0543-7. PMC 5123280. PMID 27884168.