Friedreich's ataxia causes: Difference between revisions
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{{Friedreich's ataxia}} | {{Friedreich's ataxia}} | ||
{{CMG}} ; {{AE}}[[User:M Jahan|Mohamadmostafa Jahansouz M.D.]][[Mailto:mjahanso@bidmc.harvard.edu|[2]]] | {{CMG}} ; {{AE}}[[User:M Jahan|Mohamadmostafa Jahansouz M.D.]]<nowiki>[[Mailto:mjahanso@bidmc.harvard.edu|[2]]]</nowiki> | ||
==Overview== | ==Overview== | ||
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. [[Frataxin]] is a small mitochondrial protein and deficiency of [[frataxin]] is responsible for all clinical and morphological manifestations of Friedreich’s ataxia. | |||
==Causes== | ==Causes== | ||
===Genetic Causes=== | ===Genetic Causes=== | ||
Revision as of 15:15, 19 April 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Mohamadmostafa Jahansouz M.D.[[Mailto:mjahanso@bidmc.harvard.edu|[2]]]
Overview
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. Frataxin is a small mitochondrial protein and deficiency of frataxin is responsible for all clinical and morphological manifestations of Friedreich’s ataxia.
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.