Mitochondrial complex I deficiency

Definition:

Mitochondrial complex I deficiency, the most common mitochondrial disorders, is a group of highly heterogeneous conditions characterised by faulty oxidative phosphorylation (OXPHOS). Human complex I is a giant multiheteromeric structure. Complex I deficiency is known to be associated with a broad spectrum of clinical presentations, that include encephalopathy, cardiomyopathy, myopathy, and liver disease.

References:

[1]. Ahmad Alahmad, et al. Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I. EMBO Mol Med. 2020 Nov 6;12(11):e12619. [Content Brief]

[2]. Ann Saada, et al. C6ORF66 is an assembly factor of mitochondrial complex I. Am J Hum Genet. 2008 Jan;82(1):32-8. [Content Brief]

[3]. Ann Saada, et al. Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. Am J Hum Genet. 2009 Jun;84(6):718-27. [Content Brief]

[4]. B J C van den Bosch, et al. Defective NDUFA9 as a novel cause of neonatally fatal complex I disease. J Med Genet. 2012 Jan;49(1):10-5. [Content Brief]

[5]. Canny Sugiana, et al. Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. Am J Hum Genet. 2008 Oct;83(4):468-78. [Content Brief]

[6]. Charlotte L Alston, et al. Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency. Am J Hum Genet. 2018 Oct 4;103(4):592-601. [Content Brief]

[7]. Charlotte L Alston, et al. Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency. Am J Hum Genet. 2020 Jan 2;106(1):92-101. [Content Brief]

[8]. Claire Angebault, et al. Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. Hum Mol Genet. 2015 Jul 15;24(14):3948-55. [Content Brief]

[9]. Cristina Ugalde, et al. Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. Ann Neurol. 2003 Nov;54(5):665-9. [Content Brief]

[10]. Daniel Fernandez-Moreira, et al. X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. Ann Neurol. 2007 Jan;61(1):73-83. [Content Brief]

[11]. David J Pagliarini, et al. A mitochondrial protein compendium elucidates complex I disease biology. Cell. 2008 Jul 11;134(1):112-23. [Content Brief]

[12]. Denise M Kirby, et al. NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. J Clin Invest. 2004 Sep;114(6):837-45. [Content Brief]

[13]. Dorota Piekutowska-Abramczuk, et al. NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. Am J Hum Genet. 2018 Mar 1;102(3):460-467. [Content Brief]

[14]. Elisa Fassone, et al. Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. J Med Genet. 2011 Oct;48(10):691-7. [Content Brief]

[15]. Elsebet Ostergaard, et al. Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. J Med Genet. 2011 Nov;48(11):737-40. [Content Brief]

[16]. Felix Distelmaier, et al. Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain. 2009 Apr;132(Pt 4):833-42. [Content Brief]

[17]. Henk-Jan Visch, et al. Inhibition of mitochondrial Na+-Ca2+ exchange restores agonist-induced ATP production and Ca2+ handling in human complex I deficiency. J Biol Chem. 2004 Sep 24;279(39):40328-36. [Content Brief]

[18]. Isla Ogilvie, et al. A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. J Clin Invest. 2005 Oct;115(10):2784-92. [Content Brief]

[19]. Itai Berger, et al. Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation. Ann Neurol. 2008 Mar;63(3):405-8. [Content Brief]

[20]. J Loeffen, et al. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am J Hum Genet. 1998 Dec;63(6):1598-608. [Content Brief]

[21]. L van den Heuvel, et al. Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit. Am J Hum Genet. 1998 Feb;62(2):262-8. [Content Brief]

[22]. Laura S Kremer, et al. Genetic diagnosis of Mendelian disorders via RNA sequencing. Nat Commun. 2017 Jun 12;8:15824. [Content Brief]

[23]. Laura Sánchez-Caballero, et al. Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. Am J Hum Genet. 2016 Jul 7;99(1):208-16. [Content Brief]

[24]. M Deschauer, et al. Late-onset encephalopathy associated with a C11777A mutation of mitochondrial DNA. Neurology. 2003 Apr 22;60(8):1357-9. [Content Brief]

[25]. M He, et al. A new genetic disorder in mitochondrial fatty acid beta-oxidation: ACAD9 deficiency. Am J Hum Genet. 2007 Jul;81(1):87-103. [Content Brief]

[26]. M Schuelke, et al. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nat Genet. 1999 Mar;21(3):260-1. [Content Brief]

[27]. Marianne Schwartz, et al. Paternal inheritance of mitochondrial DNA. N Engl J Med. 2002 Aug 22;347(8):576-80. [Content Brief]

[28]. Marisa W Friederich, et al. Mutations in the accessory subunit NDUFB10 result in isolated complex I deficiency and illustrate the critical role of intermembrane space import for complex I holoenzyme assembly. Hum Mol Genet. 2017 Feb 15;26(4):702-716. [Content Brief]

[29]. Masakazu Kohda, et al. A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. PLoS Genet. 2016 Jan 7;12(1):e1005679. [Content Brief]

[30]. O Musumeci, et al. Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy. Am J Hum Genet. 2000 Jun;66(6):1900-4. [Content Brief]

[31]. P Bénit, et al. Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Am J Hum Genet. 2001 Jun;68(6):1344-52. [Content Brief]

[32]. P Bénit, et al. Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome. J Med Genet. 2004 Jan;41(1):14-7. [Content Brief]

[33]. Paule Bénit, et al. Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy. Hum Mutat. 2003 Jun;21(6):582-6. [Content Brief]

[34]. R W Taylor, et al. Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene. Ann Neurol. 2001 Jul;50(1):104-7. [Content Brief]

[35]. Robert W Taylor, et al. Leigh disease associated with a novel mitochondrial DNA ND5 mutation. Eur J Hum Genet. 2002 Feb;10(2):141-4. [Content Brief]

[36]. Sarah E Calvo, et al. High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. Nat Genet. 2010 Oct;42(10):851-8. [Content Brief]

[37]. Sarah E Calvo, et al. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med. 2012 Jan 25;4(118):118ra10. [Content Brief]

[38]. Saskia J G Hoefs, et al. NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. Eur J Hum Genet. 2011 Mar;19(3):270-4. [Content Brief]

[39]. Saskia J G Hoefs, et al. NDUFA2 complex I mutation leads to Leigh disease. Am J Hum Genet. 2008 Jun;82(6):1306-15. [Content Brief]

[40]. Tobias B Haack, et al. Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J Med Genet. 2012 Apr;49(4):277-83. [Content Brief]

[41]. Tobias B Haack, et al. Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. J Med Genet. 2012 Feb;49(2):83-9. [Content Brief]

[42]. Yukiko Yatsuka, et al. A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency. Clin Genet. 2020 Aug;98(2):155-165. [Content Brief]

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