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Mitochondrial oxidative phosphorylation disorder

MedGen UID:
1825947
Concept ID:
C5679825
Disease or Syndrome
Synonyms: mitochondrial oxidative phosphorylation disorder; OXPHOS disease; OXPHOS system deficiency
 
Monarch Initiative: MONDO:0016387
Orphanet: ORPHA223713

Professional guidelines

PubMed

Zou Y, Sun Y, Wang Y, Zhang D, Yang H, Wang X, Zheng M, Shi B
Nat Commun 2023 Jul 28;14(1):4557. doi: 10.1038/s41467-023-40280-3. PMID: 37507371Free PMC Article
Ahmed ST, Craven L, Russell OM, Turnbull DM, Vincent AE
Neurotherapeutics 2018 Oct;15(4):943-953. doi: 10.1007/s13311-018-00674-4. PMID: 30406383Free PMC Article
Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F
J Neurol Neurosurg Psychiatry 2014 Mar;85(3):257-65. Epub 2013 Jun 14 doi: 10.1136/jnnp-2012-304426. PMID: 23772060

Recent clinical studies

Etiology

Lee H, Cho S, Kim MJ, Park YJ, Cho E, Jo YS, Kim YS, Lee JY, Thoudam T, Woo SH, Lee SI, Jeon J, Lee YS, Suh BC, Yoon JH, Go Y, Lee IK, Seo J
Cell Rep 2023 Oct 31;42(10):113183. Epub 2023 Sep 29 doi: 10.1016/j.celrep.2023.113183. PMID: 37777962
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
Protasoni M, Zeviani M
Int J Mol Sci 2021 Jan 8;22(2) doi: 10.3390/ijms22020586. PMID: 33435522Free PMC Article
Fernandez-Vizarra E, Zeviani M
FEBS Lett 2021 Apr;595(8):1062-1106. Epub 2020 Dec 18 doi: 10.1002/1873-3468.13995. PMID: 33159691
Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM
Nat Rev Dis Primers 2016 Oct 20;2:16080. doi: 10.1038/nrdp.2016.80. PMID: 27775730

Diagnosis

Rahman S
Handb Clin Neurol 2023;194:43-63. doi: 10.1016/B978-0-12-821751-1.00015-4. PMID: 36813320
Aranda-Rivera AK, Cruz-Gregorio A, Aparicio-Trejo OE, Pedraza-Chaverri J
Biomolecules 2021 Aug 3;11(8) doi: 10.3390/biom11081144. PMID: 34439810Free PMC Article
Fernandez-Vizarra E, Zeviani M
FEBS Lett 2021 Apr;595(8):1062-1106. Epub 2020 Dec 18 doi: 10.1002/1873-3468.13995. PMID: 33159691
Cunnane SC, Trushina E, Morland C, Prigione A, Casadesus G, Andrews ZB, Beal MF, Bergersen LH, Brinton RD, de la Monte S, Eckert A, Harvey J, Jeggo R, Jhamandas JH, Kann O, la Cour CM, Martin WF, Mithieux G, Moreira PI, Murphy MP, Nave KA, Nuriel T, Oliet SHR, Saudou F, Mattson MP, Swerdlow RH, Millan MJ
Nat Rev Drug Discov 2020 Sep;19(9):609-633. Epub 2020 Jul 24 doi: 10.1038/s41573-020-0072-x. PMID: 32709961Free PMC Article
Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, Suomalainen A, Thorburn DR, Zeviani M, Turnbull DM
Nat Rev Dis Primers 2016 Oct 20;2:16080. doi: 10.1038/nrdp.2016.80. PMID: 27775730

Therapy

Johnson RJ, Lanaspa MA, Sanchez-Lozada LG, Tolan D, Nakagawa T, Ishimoto T, Andres-Hernando A, Rodriguez-Iturbe B, Stenvinkel P
Philos Trans R Soc Lond B Biol Sci 2023 Sep 11;378(1885):20220230. Epub 2023 Jul 24 doi: 10.1098/rstb.2022.0230. PMID: 37482773Free PMC Article
Li YJ, Zhang C, Martincuks A, Herrmann A, Yu H
Nat Rev Cancer 2023 Mar;23(3):115-134. Epub 2023 Jan 3 doi: 10.1038/s41568-022-00537-3. PMID: 36596870
Guo Y, Xie YQ, Gao M, Zhao Y, Franco F, Wenes M, Siddiqui I, Bevilacqua A, Wang H, Yang H, Feng B, Xie X, Sabatel CM, Tschumi B, Chaiboonchoe A, Wang Y, Li W, Xiao W, Held W, Romero P, Ho PC, Tang L
Nat Immunol 2021 Jun;22(6):746-756. Epub 2021 May 24 doi: 10.1038/s41590-021-00940-2. PMID: 34031618Free PMC Article
Hirano M, Emmanuele V, Quinzii CM
Essays Biochem 2018 Jul 20;62(3):467-481. doi: 10.1042/EBC20170114. PMID: 29980632Free PMC Article
Varga ZV, Ferdinandy P, Liaudet L, Pacher P
Am J Physiol Heart Circ Physiol 2015 Nov;309(9):H1453-67. Epub 2015 Sep 18 doi: 10.1152/ajpheart.00554.2015. PMID: 26386112Free PMC Article

Prognosis

Dai C, Tan C, Zhao L, Liang Y, Liu G, Liu H, Zhong Y, Liu Z, Mo L, Liu X, Chen L
Brain Res Bull 2023 Jul;199:110672. Epub 2023 May 18 doi: 10.1016/j.brainresbull.2023.110672. PMID: 37210012
Delaunay S, Pascual G, Feng B, Klann K, Behm M, Hotz-Wagenblatt A, Richter K, Zaoui K, Herpel E, Münch C, Dietmann S, Hess J, Benitah SA, Frye M
Nature 2022 Jul;607(7919):593-603. Epub 2022 Jun 29 doi: 10.1038/s41586-022-04898-5. PMID: 35768510Free 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
Bates J, Vijayakumar A, Ghoshal S, Marchand B, Yi S, Kornyeyev D, Zagorska A, Hollenback D, Walker K, Liu K, Pendem S, Newstrom D, Brockett R, Mikaelian I, Kusam S, Ramirez R, Lopez D, Li L, Fuchs BC, Breckenridge DG
J Hepatol 2020 Oct;73(4):896-905. Epub 2020 May 4 doi: 10.1016/j.jhep.2020.04.037. PMID: 32376414
Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ, Mayatepek E, Morava E, Distelmaier F
J Neurol Neurosurg Psychiatry 2014 Mar;85(3):257-65. Epub 2013 Jun 14 doi: 10.1136/jnnp-2012-304426. PMID: 23772060

Clinical prediction guides

Delaunay S, Pascual G, Feng B, Klann K, Behm M, Hotz-Wagenblatt A, Richter K, Zaoui K, Herpel E, Münch C, Dietmann S, Hess J, Benitah SA, Frye M
Nature 2022 Jul;607(7919):593-603. Epub 2022 Jun 29 doi: 10.1038/s41586-022-04898-5. PMID: 35768510Free PMC Article
Ge Q, Jia D, Cen D, Qi Y, Shi C, Li J, Sang L, Yang LJ, He J, Lin A, Chen S, Wang L
J Clin Invest 2021 Nov 15;131(22) doi: 10.1172/JCI152911. PMID: 34591791Free 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
Mok BY, de Moraes MH, Zeng J, Bosch DE, Kotrys AV, Raguram A, Hsu F, Radey MC, Peterson SB, Mootha VK, Mougous JD, Liu DR
Nature 2020 Jul;583(7817):631-637. Epub 2020 Jul 8 doi: 10.1038/s41586-020-2477-4. PMID: 32641830Free PMC Article
Fontecha-Barriuso M, Martin-Sanchez D, Martinez-Moreno JM, Monsalve M, Ramos AM, Sanchez-Niño MD, Ruiz-Ortega M, Ortiz A, Sanz AB
Biomolecules 2020 Feb 24;10(2) doi: 10.3390/biom10020347. PMID: 32102312Free PMC Article

Recent systematic reviews

Sánchez-Quintero MJ, Rodríguez-Díaz C, Rodríguez-González FJ, Fernández-Castañer A, García-Fuentes E, López-Gómez C
Int J Mol Sci 2023 Dec 4;24(23) doi: 10.3390/ijms242317124. PMID: 38069446Free PMC Article
Lim AY, Chen YC, Hsu CC, Fu TC, Wang JS
Int J Mol Sci 2022 Oct 19;23(20) doi: 10.3390/ijms232012559. PMID: 36293409Free PMC Article
de Kok MJC, Schaapherder AF, Wüst RCI, Zuiderwijk M, Bakker JA, Lindeman JHN, Le Dévédec SE
Mitochondrion 2021 Jul;59:83-95. Epub 2021 Apr 1 doi: 10.1016/j.mito.2021.03.014. PMID: 33812964
Finsterer J, Aliyev R
J Neurol Sci 2020 May 15;412:116726. Epub 2020 Feb 7 doi: 10.1016/j.jns.2020.116726. PMID: 32088469
Rai PK, Russell OM, Lightowlers RN, Turnbull DM
Br Med Bull 2015;116:5-18. Epub 2015 Nov 20 doi: 10.1093/bmb/ldv046. PMID: 26590387

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