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Complex V deficiency

MedGen UID:
452448
•Concept ID:
C0342779
•
Disease or Syndrome
Synonyms: Complex 5 mitochondrial respiratory chain deficiency; Mitochondrial complex V deficiency
 
Related genes: ATPAF2, TMEM70, ATP5F1E

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

In Silico Repurposing of J147 for Neonatal Encephalopathy Treatment: Exploring Molecular Mechanisms of Mutant Mitochondrial ATP Synthase.
Emmanuel IA, Olotu FA, Agoni C, Soliman MES
Curr Pharm Biotechnol 2020;21(14):1551-1566. doi: 10.2174/1389201021666200628152246. PMID: 32598251

Recent clinical studies

Etiology

A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.
Lines MA, Cuillerier A, Chakraborty P, Naas T, Duque Lasio ML, Michaud J, Pileggi C, Harper ME, Burelle Y, Toler TL, Sondheimer N, Crawford HP, Millan F, Geraghty MT
Eur J Hum Genet 2021 Nov;29(11):1719-1724. Epub 2021 Sep 6 doi: 10.1038/s41431-021-00956-0. PMID: 34483339Free PMC Article
TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation.
Staretz-Chacham O, Wormser O, Manor E, Birk OS, Ferreira CR
Am J Med Genet A 2019 Jul;179(7):1293-1298. Epub 2019 Apr 4 doi: 10.1002/ajmg.a.61138. PMID: 30950220Free PMC Article
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.
Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, Pri Chen H, Edvardson S, Mazaheri S, Saada A; NISC Intramural Sequencing, Hershkovitz E, Shaag A, Huizing M, Abu-Libdeh B, Gahl WA, Azem A, Anikster Y, Vilboux T, Elpeleg O, Malicdan MC
Clin Genet 2017 May;91(5):690-696. Epub 2016 Oct 12 doi: 10.1111/cge.12855. PMID: 27573165Free PMC Article
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA, Morava E
Brain 2009 Jan;132(Pt 1):136-46. Epub 2008 Nov 16 doi: 10.1093/brain/awn296. PMID: 19015156
The expanding clinical spectrum of mitochondrial diseases.
De Vivo DC
Brain Dev 1993 Jan-Feb;15(1):1-22. doi: 10.1016/0387-7604(93)90002-p. PMID: 8338207

Diagnosis

Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype-Different Onset.
Capiau S, Smet J, De Paepe B, Yildiz Y, Arslan M, Stevens O, Verschoore M, Stepman H, Seneca S, Vanlander A
Cells 2022 Jan 30;11(3) doi: 10.3390/cells11030489. PMID: 35159298Free PMC Article
TMEM70 deficiency: Novel mutation and hypercitrullinemia during metabolic decompensation.
Staretz-Chacham O, Wormser O, Manor E, Birk OS, Ferreira CR
Am J Med Genet A 2019 Jul;179(7):1293-1298. Epub 2019 Apr 4 doi: 10.1002/ajmg.a.61138. PMID: 30950220Free PMC Article
A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.
Cohen I, Staretz-Chacham O, Wormser O, Perez Y, Saada A, Kadir R, Birk OS
Am J Med Genet A 2018 Feb;176(2):330-336. Epub 2017 Dec 11 doi: 10.1002/ajmg.a.38574. PMID: 29226520
A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy.
Jackson CB, Hahn D, Schröter B, Richter U, Battersby BJ, Schmitt-Mechelke T, Marttinen P, Nuoffer JM, Schaller A
Eur J Med Genet 2017 Jun;60(6):345-351. Epub 2017 Apr 13 doi: 10.1016/j.ejmg.2017.04.006. PMID: 28412374
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.
Jonckheere AI, Renkema GH, Bras M, van den Heuvel LP, Hoischen A, Gilissen C, Nabuurs SB, Huynen MA, de Vries MC, Smeitink JA, Rodenburg RJ
Brain 2013 May;136(Pt 5):1544-54. Epub 2013 Apr 18 doi: 10.1093/brain/awt086. PMID: 23599390

Prognosis

A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.
Lines MA, Cuillerier A, Chakraborty P, Naas T, Duque Lasio ML, Michaud J, Pileggi C, Harper ME, Burelle Y, Toler TL, Sondheimer N, Crawford HP, Millan F, Geraghty MT
Eur J Hum Genet 2021 Nov;29(11):1719-1724. Epub 2021 Sep 6 doi: 10.1038/s41431-021-00956-0. PMID: 34483339Free PMC Article
Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations.
Shahrour MA, Staretz-Chacham O, Dayan D, Stephen J, Weech A, Damseh N, Pri Chen H, Edvardson S, Mazaheri S, Saada A; NISC Intramural Sequencing, Hershkovitz E, Shaag A, Huizing M, Abu-Libdeh B, Gahl WA, Azem A, Anikster Y, Vilboux T, Elpeleg O, Malicdan MC
Clin Genet 2017 May;91(5):690-696. Epub 2016 Oct 12 doi: 10.1111/cge.12855. PMID: 27573165Free PMC Article
Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology.
Jonckheere AI, Huigsloot M, Lammens M, Jansen J, van den Heuvel LP, Spiekerkoetter U, von Kleist-Retzow JC, Forkink M, Koopman WJ, Szklarczyk R, Huynen MA, Fransen JA, Smeitink JA, Rodenburg RJ
Mitochondrion 2011 Nov;11(6):954-63. Epub 2011 Sep 14 doi: 10.1016/j.mito.2011.08.012. PMID: 21945727
Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12.
De Meirleir L, Seneca S, Lissens W, De Clercq I, Eyskens F, Gerlo E, Smet J, Van Coster R
J Med Genet 2004 Feb;41(2):120-4. doi: 10.1136/jmg.2003.012047. PMID: 14757859Free PMC Article

Clinical prediction guides

A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.
Lines MA, Cuillerier A, Chakraborty P, Naas T, Duque Lasio ML, Michaud J, Pileggi C, Harper ME, Burelle Y, Toler TL, Sondheimer N, Crawford HP, Millan F, Geraghty MT
Eur J Hum Genet 2021 Nov;29(11):1719-1724. Epub 2021 Sep 6 doi: 10.1038/s41431-021-00956-0. PMID: 34483339Free PMC Article
In Silico Repurposing of J147 for Neonatal Encephalopathy Treatment: Exploring Molecular Mechanisms of Mutant Mitochondrial ATP Synthase.
Emmanuel IA, Olotu FA, Agoni C, Soliman MES
Curr Pharm Biotechnol 2020;21(14):1551-1566. doi: 10.2174/1389201021666200628152246. PMID: 32598251
A complex V ATP5A1 defect causes fatal neonatal mitochondrial encephalopathy.
Jonckheere AI, Renkema GH, Bras M, van den Heuvel LP, Hoischen A, Gilissen C, Nabuurs SB, Huynen MA, de Vries MC, Smeitink JA, Rodenburg RJ
Brain 2013 May;136(Pt 5):1544-54. Epub 2013 Apr 18 doi: 10.1093/brain/awt086. PMID: 23599390
Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology.
Jonckheere AI, Huigsloot M, Lammens M, Jansen J, van den Heuvel LP, Spiekerkoetter U, von Kleist-Retzow JC, Forkink M, Koopman WJ, Szklarczyk R, Huynen MA, Fransen JA, Smeitink JA, Rodenburg RJ
Mitochondrion 2011 Nov;11(6):954-63. Epub 2011 Sep 14 doi: 10.1016/j.mito.2011.08.012. PMID: 21945727
Superoxide-induced massive apoptosis in cultured skin fibroblasts harboring the neurogenic ataxia retinitis pigmentosa (NARP) mutation in the ATPase-6 gene of the mitochondrial DNA.
Geromel V, Kadhom N, Cebalos-Picot I, Ouari O, Polidori A, Munnich A, Rötig A, Rustin P
Hum Mol Genet 2001 May 15;10(11):1221-8. doi: 10.1093/hmg/10.11.1221. PMID: 11371515

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