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Mitochondrial complex 1 deficiency, mitochondrial type 1(MC1DM1)

MedGen UID:
1648371
•Concept ID:
C4746992
•
Disease or Syndrome
Synonym: MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 1
 
Monarch Initiative: MONDO:0027068
OMIM®: 500014

Definition

Any mitochondrial complex 1 deficiency, mitochondrial type 1, in which the cause of the disease is a mutation in the MTND3 gene. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
Bölsterli BK, Boltshauser E, Palmieri L, Spenger J, Brunner-Krainz M, Distelmaier F, Freisinger P, Geis T, Gropman AL, Häberle J, Hentschel J, Jeandidier B, Karall D, Keren B, Klabunde-Cherwon A, Konstantopoulou V, Kottke R, Lasorsa FM, Makowski C, Mignot C, O'Gorman Tuura R, Porcelli V, Santer R, Sen K, Steinbrücker K, Syrbe S, Wagner M, Ziegler A, Zöggeler T, Mayr JA, Prokisch H, Wortmann SB
Nutrients 2022 Aug 31;14(17) doi: 10.3390/nu14173605. PMID: 36079864Free PMC Article
ISG15 deficiency features a complex cellular phenotype that responds to treatment with itaconate and derivatives.
Waqas SF, Sohail A, Nguyen AHH, Usman A, Ludwig T, Wegner A, Malik MNH, Schuchardt S, Geffers R, Winterhoff M, Merkert S, Martin U, Olmer R, Lachmann N, Pessler F
Clin Transl Med 2022 Jul;12(7):e931. doi: 10.1002/ctm2.931. PMID: 35842904Free PMC Article
Ketogenic Diets in the Treatment of Epilepsy.
Elia M, Klepper J, Leiendecker B, Hartmann H
Curr Pharm Des 2017;23(37):5691-5701. doi: 10.2174/1381612823666170809101517. PMID: 28799513

Recent clinical studies

Etiology

Is Type 2 Diabetes a Primary Mitochondrial Disorder?
Weksler-Zangen S
Cells 2022 May 12;11(10) doi: 10.3390/cells11101617. PMID: 35626654Free PMC Article
Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
van de Wal MAE, Adjobo-Hermans MJW, Keijer J, Schirris TJJ, Homberg JR, Wieckowski MR, Grefte S, van Schothorst EM, van Karnebeek C, Quintana A, Koopman WJH
Brain 2022 Mar 29;145(1):45-63. doi: 10.1093/brain/awab426. PMID: 34849584Free PMC Article
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.
Gavrilovici C, Rho JM
J Inherit Metab Dis 2021 Jan;44(1):42-53. Epub 2020 Aug 11 doi: 10.1002/jimd.12283. PMID: 32654164
Diminished OPA1 expression and impaired mitochondrial morphology and homeostasis in Aprataxin-deficient cells.
Zheng J, Croteau DL, Bohr VA, Akbari M
Nucleic Acids Res 2019 May 7;47(8):4086-4110. doi: 10.1093/nar/gkz083. PMID: 30986824Free PMC Article
Impaired autophagy and APP processing in Alzheimer's disease: The potential role of Beclin 1 interactome.
Salminen A, Kaarniranta K, Kauppinen A, Ojala J, Haapasalo A, Soininen H, Hiltunen M
Prog Neurobiol 2013 Jul-Aug;106-107:33-54. Epub 2013 Jul 1 doi: 10.1016/j.pneurobio.2013.06.002. PMID: 23827971

Diagnosis

Is Type 2 Diabetes a Primary Mitochondrial Disorder?
Weksler-Zangen S
Cells 2022 May 12;11(10) doi: 10.3390/cells11101617. PMID: 35626654Free PMC Article
Sphingolipids as a Culprit of Mitochondrial Dysfunction in Insulin Resistance and Type 2 Diabetes.
Roszczyc-Owsiejczuk K, Zabielski P
Front Endocrinol (Lausanne) 2021;12:635175. Epub 2021 Mar 18 doi: 10.3389/fendo.2021.635175. PMID: 33815291Free PMC Article
A guide to assessing cellular senescence in vitro and in vivo.
González-Gualda E, Baker AG, Fruk L, Muñoz-Espín D
FEBS J 2021 Jan;288(1):56-80. Epub 2020 Oct 10 doi: 10.1111/febs.15570. PMID: 32961620
The role of carnitine in the perinatal period.
Kępka A, Chojnowska S, Okungbowa OE, Zwierz K
Dev Period Med 2014 Oct-Dec;18(4):417-25. PMID: 25874778
Decoding Alzheimer's disease from perturbed cerebral glucose metabolism: implications for diagnostic and therapeutic strategies.
Chen Z, Zhong C
Prog Neurobiol 2013 Sep;108:21-43. Epub 2013 Jul 11 doi: 10.1016/j.pneurobio.2013.06.004. PMID: 23850509

Therapy

Mechanism of action of Imeglimin: A novel therapeutic agent for type 2 diabetes.
Hallakou-Bozec S, Vial G, Kergoat M, Fouqueray P, Bolze S, Borel AL, Fontaine E, Moller DE
Diabetes Obes Metab 2021 Mar;23(3):664-673. Epub 2020 Dec 29 doi: 10.1111/dom.14277. PMID: 33269554Free PMC Article
Metabolic epilepsies amenable to ketogenic therapies: Indications, contraindications, and underlying mechanisms.
Gavrilovici C, Rho JM
J Inherit Metab Dis 2021 Jan;44(1):42-53. Epub 2020 Aug 11 doi: 10.1002/jimd.12283. PMID: 32654164
Ketogenic Diets in the Treatment of Epilepsy.
Elia M, Klepper J, Leiendecker B, Hartmann H
Curr Pharm Des 2017;23(37):5691-5701. doi: 10.2174/1381612823666170809101517. PMID: 28799513
Ketogenic diets in patients with inherited metabolic disorders.
Scholl-Bürgi S, Höller A, Pichler K, Michel M, Haberlandt E, Karall D
J Inherit Metab Dis 2015 Jul;38(4):765-73. Epub 2015 Jun 25 doi: 10.1007/s10545-015-9872-2. PMID: 26109259
The role of carnitine in the perinatal period.
Kępka A, Chojnowska S, Okungbowa OE, Zwierz K
Dev Period Med 2014 Oct-Dec;18(4):417-25. PMID: 25874778

Prognosis

ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.
Skopkova M, Stufkova H, Rambani V, Stranecky V, Brennerova K, Kolnikova M, Pietrzykova M, Karhanek M, Noskova L, Tesarova M, Hansikova H, Gasperikova D
Orphanet J Rare Dis 2023 Apr 24;18(1):92. doi: 10.1186/s13023-023-02689-3. PMID: 37095554Free PMC Article
Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
van de Wal MAE, Adjobo-Hermans MJW, Keijer J, Schirris TJJ, Homberg JR, Wieckowski MR, Grefte S, van Schothorst EM, van Karnebeek C, Quintana A, Koopman WJH
Brain 2022 Mar 29;145(1):45-63. doi: 10.1093/brain/awab426. PMID: 34849584Free PMC Article
The mitochondrial type IB topoisomerase drives mitochondrial translation and carcinogenesis.
Baechler SA, Factor VM, Dalla Rosa I, Ravji A, Becker D, Khiati S, Miller Jenkins LM, Lang M, Sourbier C, Michaels SA, Neckers LM, Zhang HL, Spinazzola A, Huang SN, Marquardt JU, Pommier Y
Nat Commun 2019 Jan 8;10(1):83. doi: 10.1038/s41467-018-07922-3. PMID: 30622257Free PMC Article
Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency.
Willems PH, Valsecchi F, Distelmaier F, Verkaart S, Visch HJ, Smeitink JA, Koopman WJ
Cell Calcium 2008 Jul;44(1):123-33. Epub 2008 Mar 4 doi: 10.1016/j.ceca.2008.01.002. PMID: 18295330
Review: Metabolic cardiomyopathy and conduction system defects in children.
Gilbert-Barness E
Ann Clin Lab Sci 2004 Winter;34(1):15-34. PMID: 15038665

Clinical prediction guides

NFE2L1-mediated proteasome function protects from ferroptosis.
Kotschi S, Jung A, Willemsen N, Ofoghi A, Proneth B, Conrad M, Bartelt A
Mol Metab 2022 Mar;57:101436. Epub 2022 Jan 6 doi: 10.1016/j.molmet.2022.101436. PMID: 34999280Free PMC Article
Mitochondrial Telomerase Reverse Transcriptase Protects From Myocardial Ischemia/Reperfusion Injury by Improving Complex I Composition and Function.
Ale-Agha N, Jakobs P, Goy C, Zurek M, Rosen J, Dyballa-Rukes N, Metzger S, Greulich J, von Ameln F, Eckermann O, Unfried K, Brack F, Grandoch M, Thielmann M, Kamler M, Gedik N, Kleinbongard P, Heinen A, Heusch G, Gödecke A, Altschmied J, Haendeler J
Circulation 2021 Dec 7;144(23):1876-1890. Epub 2021 Oct 21 doi: 10.1161/CIRCULATIONAHA.120.051923. PMID: 34672678
Mechanism of action of Imeglimin: A novel therapeutic agent for type 2 diabetes.
Hallakou-Bozec S, Vial G, Kergoat M, Fouqueray P, Bolze S, Borel AL, Fontaine E, Moller DE
Diabetes Obes Metab 2021 Mar;23(3):664-673. Epub 2020 Dec 29 doi: 10.1111/dom.14277. PMID: 33269554Free PMC Article
Alternative mitochondrial quality control mediated by extracellular release.
Choong CJ, Okuno T, Ikenaka K, Baba K, Hayakawa H, Koike M, Yokota M, Doi J, Kakuda K, Takeuchi T, Kuma A, Nakamura S, Nagai Y, Nagano S, Yoshimori T, Mochizuki H
Autophagy 2021 Oct;17(10):2962-2974. Epub 2020 Dec 10 doi: 10.1080/15548627.2020.1848130. PMID: 33218272Free PMC Article
The many faces of plectin and plectinopathies: pathology and mechanisms.
Winter L, Wiche G
Acta Neuropathol 2013 Jan;125(1):77-93. Epub 2012 Aug 3 doi: 10.1007/s00401-012-1026-0. PMID: 22864774

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