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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

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
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
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

Kleefeld F, Horvath R, Pinal-Fernandez I, Mammen AL, Casal-Dominguez M, Hathazi D, Melchert S, Hahn K, Sickmann A, Muselmann-Genschow C, Hentschel A, Preuße C, Roos A, Schoser B, Stenzel W
Acta Neuropathol 2024 Jan 19;147(1):19. doi: 10.1007/s00401-023-02673-y. PMID: 38240888Free PMC Article
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
Weksler-Zangen S
Cells 2022 May 12;11(10) doi: 10.3390/cells11101617. PMID: 35626654Free PMC Article
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
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

Paez HG, Ferrandi PJ, Pitzer CR, Mohamed JS, Alway SE
FASEB J 2023 Aug;37(8):e23050. doi: 10.1096/fj.202202029R. PMID: 37389860
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
Weksler-Zangen S
Cells 2022 May 12;11(10) doi: 10.3390/cells11101617. PMID: 35626654Free PMC Article
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
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

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
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
Elia M, Klepper J, Leiendecker B, Hartmann H
Curr Pharm Des 2017;23(37):5691-5701. doi: 10.2174/1381612823666170809101517. PMID: 28799513
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
Kępka A, Chojnowska S, Okungbowa OE, Zwierz K
Dev Period Med 2014 Oct-Dec;18(4):417-25. PMID: 25874778

Prognosis

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
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
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
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
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

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
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
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
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
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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