Friedreich's ataxia causes: Difference between revisions
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==Causes== | ==Causes== | ||
===Genetic Causes=== | ===Genetic Causes=== | ||
*It is understood that Friedreich’s ataxia is the result of a [[homozygous]] [[guanine]]-[[adenine]]-[[adenine]] (GAA) [[Trinucleotide repeat expansion disorders|trinucleotide repeat expansion]] on chromosome 9q13 that causes a transcriptional defect of the [[frataxin]] gene. | *It is understood that Friedreich’s ataxia is the result of a [[homozygous]] [[guanine]]-[[adenine]]-[[adenine]] (GAA) [[Trinucleotide repeat expansion disorders|trinucleotide repeat expansion]] on chromosome 9q13 that causes a transcriptional defect of the [[frataxin]] gene.<ref name="pmid3062632">{{cite journal |vauthors=Marcus AJ, Safier LB, Ullman HL, Islam N, Broekman MJ, Falck JR, Fischer S, von Schacky C |title=Cell-cell interactions in the eicosanoid pathways |journal=Prog. Clin. Biol. Res. |volume=283 |issue= |pages=559–67 |date=1988 |pmid=3062632 |doi= |url=}}</ref> | ||
*[[Frataxin]] is a small mitochondrial protein and deficiency of [[frataxin]] is responsible for all clinical and morphological manifestations of Friedreich’s ataxia. | *[[Frataxin]] is a small mitochondrial protein and deficiency of [[frataxin]] is responsible for all clinical and morphological manifestations of Friedreich’s ataxia.<ref name="pmid4783034">{{cite journal |vauthors=Frankel VH |title=Biomechanics of the musculoskeletal system. Introduction |journal=Arch Surg |volume=107 |issue=3 |pages=405 |date=September 1973 |pmid=4783034 |doi= |url=}}</ref> | ||
==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[[2]]
Overview
Causes
Genetic Causes
- It is understood that Friedreich’s ataxia is the result of a homozygous guanine-adenine-adenine (GAA) trinucleotide repeat expansion on chromosome 9q13 that causes a transcriptional defect of the frataxin gene.[1]
- Frataxin is a small mitochondrial protein and deficiency of frataxin is responsible for all clinical and morphological manifestations of Friedreich’s ataxia.[2]
References
- ↑ Marcus AJ, Safier LB, Ullman HL, Islam N, Broekman MJ, Falck JR, Fischer S, von Schacky C (1988). "Cell-cell interactions in the eicosanoid pathways". Prog. Clin. Biol. Res. 283: 559–67. PMID 3062632.
- ↑ Frankel VH (September 1973). "Biomechanics of the musculoskeletal system. Introduction". Arch Surg. 107 (3): 405. PMID 4783034.