Mitochondrial Complex III Deficiency

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Xu, R. Mitochondrial Complex III Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4216 (accessed on 28 September 2026).

Xu R. Mitochondrial Complex III Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4216. Accessed September 28, 2026.

Xu, Rita. "Mitochondrial Complex III Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4216 (accessed September 28, 2026).

Xu, R. (2020, December 23). Mitochondrial Complex III Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4216

Xu, Rita. "Mitochondrial Complex III Deficiency." Encyclopedia. Web. 23 December, 2020.

Mitochondrial Complex III Deficiency

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/mitochondrial-complex-iii-deficiency

Mitochondrial complex III deficiency is a genetic condition that can affect several parts of the body, including the brain, kidneys, liver, heart, and the muscles used for movement (skeletal muscles). Signs and symptoms of mitochondrial complex III deficiency usually begin in infancy but can appear later.

genetic conditions

References

Andreu AL, Hanna MG, Reichmann H, Bruno C, Penn AS, Tanji K, Pallotti F, IwataS, Bonilla E, Lach B, Morgan-Hughes J, DiMauro S. Exercise intolerance due tomutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med. 1999 Sep30;341(14):1037-44.
Blakely EL, Mitchell AL, Fisher N, Meunier B, Nijtmans LG, Schaefer AM,Jackson MJ, Turnbull DM, Taylor RW. A mitochondrial cytochrome b mutation causingsevere respiratory chain enzyme deficiency in humans and yeast. FEBS J. 2005Jul;272(14):3583-92.
Bénit P, Lebon S, Rustin P. Respiratory-chain diseases related to complex III deficiency. Biochim Biophys Acta. 2009 Jan;1793(1):181-5. doi:10.1016/j.bbamcr.2008.06.004.
de Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, Taanman JW,Benayoun E, Chrétien D, Kadhom N, Lombès A, de Baulny HO, Niaudet P, Munnich A,Rustin P, Rötig A. A mutant mitochondrial respiratory chain assembly proteincauses complex III deficiency in patients with tubulopathy, encephalopathy andliver failure. Nat Genet. 2001 Sep;29(1):57-60.
Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E,Donati A, Uziel G, Ferrero I, Zeviani M. Impaired complex III assembly associatedwith BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum MolGenet. 2007 May 15;16(10):1241-52.
Gil Borlado MC, Moreno Lastres D, Gonzalez Hoyuela M, Moran M, Blazquez A,Pello R, Marin Buera L, Gabaldon T, Garcia Peñas JJ, Martín MA, Arenas J, Ugalde C. Impact of the mitochondrial genetic background in complex III deficiency. PLoSOne. 2010 Sep 17;5(9). pii: e12801. doi: 10.1371/journal.pone.0012801.
Gil-Borlado MC, González-Hoyuela M, Blázquez A, García-Silva MT, Gabaldón T,Manzanares J, Vara J, Martín MA, Seneca S, Arenas J, Ugalde C. Pathogenicmutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complexIII deficiency. Mitochondrion. 2009 Sep;9(5):299-305. doi:10.1016/j.mito.2009.04.001.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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