Mitochondrial complex III deficiency

Definition:

Mitochondrial complex III deficiency (MC3DN) is a relatively rare devastating disorder that impairs energy generation, and leads to variable symptoms such as developmental regression, seizures, kidney dysfunction and frequently death. Until now, mutations in nine genes have been known to cause CIII deficiency. CYC1, UQCRB, UQCRQ, and UQCRC2 encode components of CIII itself, whereas BCS1L, TTC19, LYRM7, UQCC2, and UQCC3 produce mitochondrial assembly factors.

References:

[1]. Bas F J Wanschers, et al. A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability. Hum Mol Genet. 2014 Dec 1;23(23):6356-65. [Content Brief]

[2]. Cristina Dallabona, et al. LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance. Brain. 2016 Mar;139(Pt 3):782-94. [Content Brief]

[3]. Daniele Ghezzi, et al. Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. Nat Genet. 2011 Mar;43(3):259-63. [Content Brief]

[4]. Elena J Tucker, et al. Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression. PLoS Genet. 2013;9(12):e1004034. [Content Brief]

[5]. Mirjana Gusic, et al. Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis. Am J Hum Genet. 2020 Jan 2;106(1):102-111. [Content Brief]

[6]. Noriko Miyake, et al. Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation. Hum Mutat. 2013 Mar;34(3):446-52. [Content Brief]

[7]. Ortal Barel, et al. Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQ. Am J Hum Genet. 2008 May;82(5):1211-6. [Content Brief]

[8]. P de Lonlay, et al. A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. Nat Genet. 2001 Sep;29(1):57-60. [Content Brief]

[9]. Paule Bénit, et al. Respiratory-chain diseases related to complex III deficiency. Biochim Biophys Acta. 2009 Jan;1793(1):181-5. [Content Brief]

[10]. Pauline Gaignard, et al. Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia. Am J Hum Genet. 2013 Aug 8;93(2):384-9. [Content Brief]

[11]. Sandrine Haut, et al. A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis. Hum Genet. 2003 Jul;113(2):118-22. [Content Brief]

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