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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

FBXL4 mutations cause excessive mitophagy via BNIP3/BNIP3L accumulation leading to mitochondrial DNA depletion syndrome.
Chen Y, Jiao D, Liu Y, Xu X, Wang Y, Luo X, Saiyin H, Li Y, Gao K, Chen Y, Zhao SM, Ma L, Wang C
Cell Death Differ 2023 Oct;30(10):2351-2363. Epub 2023 Aug 11 doi: 10.1038/s41418-023-01205-1. PMID: 37568009Free PMC Article
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
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
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
Molecular aetiology of primary hyperoxaluria type 1.
Danpure CJ
Nephron Exp Nephrol 2004;98(2):e39-44. doi: 10.1159/000080254. PMID: 15499210

Therapy

Myocardial reperfusion injury exacerbation due to ALDH2 deficiency is mediated by neutrophil extracellular traps and prevented by leukotriene C4 inhibition.
Yang K, Gao R, Chen H, Hu J, Zhang P, Wei X, Shi J, Chen Y, Zhang L, Chen J, Lyu Y, Dong Z, Wei W, Hu K, Guo Y, Ge J, Sun A
Eur Heart J 2024 May 13;45(18):1662-1680. doi: 10.1093/eurheartj/ehae205. PMID: 38666340Free PMC Article
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
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
IDH2 deficiency impairs mitochondrial function in endothelial cells and endothelium-dependent vasomotor function.
Park JB, Nagar H, Choi S, Jung SB, Kim HW, Kang SK, Lee JW, Lee JH, Park JW, Irani K, Jeon BH, Song HJ, Kim CS
Free Radic Biol Med 2016 May;94:36-46. Epub 2016 Feb 17 doi: 10.1016/j.freeradbiomed.2016.02.017. PMID: 26898144
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

Prognosis

Myocardial reperfusion injury exacerbation due to ALDH2 deficiency is mediated by neutrophil extracellular traps and prevented by leukotriene C4 inhibition.
Yang K, Gao R, Chen H, Hu J, Zhang P, Wei X, Shi J, Chen Y, Zhang L, Chen J, Lyu Y, Dong Z, Wei W, Hu K, Guo Y, Ge J, Sun A
Eur Heart J 2024 May 13;45(18):1662-1680. doi: 10.1093/eurheartj/ehae205. PMID: 38666340Free PMC Article
Targeting NPM1 Epigenetically Promotes Postinfarction Cardiac Repair by Reprogramming Reparative Macrophage Metabolism.
Zhang S, Zhang Y, Duan X, Wang B, Zhan Z
Circulation 2024 Jun 18;149(25):1982-2001. Epub 2024 Feb 23 doi: 10.1161/CIRCULATIONAHA.123.065506. PMID: 38390737Free PMC Article
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

Clinical prediction guides

Myocardial reperfusion injury exacerbation due to ALDH2 deficiency is mediated by neutrophil extracellular traps and prevented by leukotriene C4 inhibition.
Yang K, Gao R, Chen H, Hu J, Zhang P, Wei X, Shi J, Chen Y, Zhang L, Chen J, Lyu Y, Dong Z, Wei W, Hu K, Guo Y, Ge J, Sun A
Eur Heart J 2024 May 13;45(18):1662-1680. doi: 10.1093/eurheartj/ehae205. PMID: 38666340Free PMC Article
FBXL4 mutations cause excessive mitophagy via BNIP3/BNIP3L accumulation leading to mitochondrial DNA depletion syndrome.
Chen Y, Jiao D, Liu Y, Xu X, Wang Y, Luo X, Saiyin H, Li Y, Gao K, Chen Y, Zhao SM, Ma L, Wang C
Cell Death Differ 2023 Oct;30(10):2351-2363. Epub 2023 Aug 11 doi: 10.1038/s41418-023-01205-1. PMID: 37568009Free 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

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