U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Mitochondrial disorder due to a defect in mitochondrial protein synthesis

MedGen UID:
1672489
Concept ID:
C4700505
Disease or Syndrome
Synonyms: Combined oxidative phosphorylation defect; Combined OXPHOS defect; Combined OXPHOS deficiency; COXPD
 
Orphanet: ORPHA35696

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMitochondrial disorder due to a defect in mitochondrial protein synthesis

Professional guidelines

PubMed

Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Longo N
Ann Nutr Metab 2016;68 Suppl 3:5-9. Epub 2016 Dec 9 doi: 10.1159/000448321. PMID: 27931018
Tort F, Ferrer-Cortes X, Ribes A
J Inherit Metab Dis 2016 Nov;39(6):781-793. Epub 2016 Sep 1 doi: 10.1007/s10545-016-9975-4. PMID: 27586888

Recent clinical studies

Etiology

Zeng Z, You M, Fan C, Rong R, Li H, Xia X
Redox Biol 2023 Jun;62:102687. Epub 2023 Mar 21 doi: 10.1016/j.redox.2023.102687. PMID: 36989574Free PMC Article
Protasoni M, Zeviani M
Int J Mol Sci 2021 Jan 8;22(2) doi: 10.3390/ijms22020586. PMID: 33435522Free PMC Article
Cacabelos R
Int J Mol Sci 2017 Mar 4;18(3) doi: 10.3390/ijms18030551. PMID: 28273839Free PMC Article
El-Hattab AW, Craigen WJ, Scaglia F
Biochim Biophys Acta Mol Basis Dis 2017 Jun;1863(6):1539-1555. Epub 2017 Feb 16 doi: 10.1016/j.bbadis.2017.02.017. PMID: 28215579
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
Wang T, Liu H, Itoh K, Oh S, Zhao L, Murata D, Sesaki H, Hartung T, Na CH, Wang J
Cell Metab 2021 Mar 2;33(3):531-546.e9. Epub 2021 Feb 4 doi: 10.1016/j.cmet.2021.01.005. PMID: 33545050Free PMC Article
Franco-Iborra S, Tanji K
Methods Cell Biol 2020;155:247-270. Epub 2020 Jan 20 doi: 10.1016/bs.mcb.2019.11.024. PMID: 32183961
Molnar MJ, Kovacs GG
Handb Clin Neurol 2017;145:147-155. doi: 10.1016/B978-0-12-802395-2.00010-9. PMID: 28987165
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

Xie SY, Liu SQ, Zhang T, Shi WK, Xing Y, Fang WX, Zhang M, Chen MY, Xu SC, Fan MQ, Li LL, Zhang H, Zhao N, Zeng ZX, Chen S, Zeng XF, Deng W, Tang QZ
Circulation 2024 Feb 27;149(9):684-706. Epub 2023 Nov 23 doi: 10.1161/CIRCULATIONAHA.123.065603. PMID: 37994595
Jin JY, Wei XX, Zhi XL, Wang XH, Meng D
Acta Pharmacol Sin 2021 May;42(5):655-664. Epub 2020 Sep 10 doi: 10.1038/s41401-020-00518-y. PMID: 32913266Free PMC Article
Kang Q, Yang C
Redox Biol 2020 Oct;37:101799. Epub 2020 Nov 13 doi: 10.1016/j.redox.2020.101799. PMID: 33248932Free PMC Article
Macdonald R, Barnes K, Hastings C, Mortiboys H
Biochem Soc Trans 2018 Aug 20;46(4):891-909. Epub 2018 Jul 19 doi: 10.1042/BST20170501. PMID: 30026371
Cacabelos R
Int J Mol Sci 2017 Mar 4;18(3) doi: 10.3390/ijms18030551. PMID: 28273839Free PMC Article

Prognosis

Zhang Y, Wang X, Li XK, Lv SJ, Wang HP, Liu Y, Zhou J, Gong H, Chen XF, Ren SC, Zhang H, Dai Y, Cai H, Yan B, Chen HZ, Tang X
Eur Heart J 2023 Aug 1;44(29):2746-2759. doi: 10.1093/eurheartj/ehad381. PMID: 37377116Free PMC Article
Deneubourg C, Ramm M, Smith LJ, Baron O, Singh K, Byrne SC, Duchen MR, Gautel M, Eskelinen EL, Fanto M, Jungbluth H
Autophagy 2022 Mar;18(3):496-517. Epub 2021 Aug 19 doi: 10.1080/15548627.2021.1943177. PMID: 34130600Free PMC Article
Patnaik MM, Tefferi A
Am J Hematol 2021 Mar 1;96(3):379-394. Epub 2021 Jan 28 doi: 10.1002/ajh.26090. PMID: 33428785
Matsumoto S, Häberle J, Kido J, Mitsubuchi H, Endo F, Nakamura K
J Hum Genet 2019 Sep;64(9):833-847. Epub 2019 May 20 doi: 10.1038/s10038-019-0614-4. PMID: 31110235
Cogné B, Ehresmann S, Beauregard-Lacroix E, Rousseau J, Besnard T, Garcia T, Petrovski S, Avni S, McWalter K, Blackburn PR, Sanders SJ, Uguen K, Harris J, Cohen JS, Blyth M, Lehman A, Berg J, Li MH, Kini U, Joss S, von der Lippe C, Gordon CT, Humberson JB, Robak L, Scott DA, Sutton VR, Skraban CM, Johnston JJ, Poduri A, Nordenskjöld M, Shashi V, Gerkes EH, Bongers EMHF, Gilissen C, Zarate YA, Kvarnung M, Lally KP, Kulch PA, Daniels B, Hernandez-Garcia A, Stong N, McGaughran J, Retterer K, Tveten K, Sullivan J, Geisheker MR, Stray-Pedersen A, Tarpinian JM, Klee EW, Sapp JC, Zyskind J, Holla ØL, Bedoukian E, Filippini F, Guimier A, Picard A, Busk ØL, Punetha J, Pfundt R, Lindstrand A, Nordgren A, Kalb F, Desai M, Ebanks AH, Jhangiani SN, Dewan T, Coban Akdemir ZH, Telegrafi A, Zackai EH, Begtrup A, Song X, Toutain A, Wentzensen IM, Odent S, Bonneau D, Latypova X, Deb W; CAUSES Study, Redon S, Bilan F, Legendre M, Troyer C, Whitlock K, Caluseriu O, Murphree MI, Pichurin PN, Agre K, Gavrilova R, Rinne T, Park M, Shain C, Heinzen EL, Xiao R, Amiel J, Lyonnet S, Isidor B, Biesecker LG, Lowenstein D, Posey JE, Denommé-Pichon AS; Deciphering Developmental Disorders study, Férec C, Yang XJ, Rosenfeld JA, Gilbert-Dussardier B, Audebert-Bellanger S, Redon R, Stessman HAF, Nellaker C, Yang Y, Lupski JR, Goldstein DB, Eichler EE, Bolduc F, Bézieau S, Küry S, Campeau PM
Am J Hum Genet 2019 Mar 7;104(3):530-541. Epub 2019 Feb 28 doi: 10.1016/j.ajhg.2019.01.010. PMID: 30827496Free PMC Article

Clinical prediction guides

Walker MA, Chen H, Yadav A, Ritterhoff J, Villet O, McMillen T, Wang Y, Purcell H, Djukovic D, Raftery D, Isoherranen N, Tian R
Circulation 2023 Dec 19;148(25):2038-2057. Epub 2023 Nov 15 doi: 10.1161/CIRCULATIONAHA.123.066039. PMID: 37965787Free PMC Article
Guhathakurta S, Erdogdu NU, Hoffmann JJ, Grzadzielewska I, Schendzielorz A, Seyfferth J, Mårtensson CU, Corrado M, Karoutas A, Warscheid B, Pfanner N, Becker T, Akhtar A
Nat Metab 2023 Nov;5(11):1931-1952. Epub 2023 Oct 9 doi: 10.1038/s42255-023-00904-w. PMID: 37813994Free PMC Article
Radaelli E, Assenmacher CA, Verrelle J, Banerjee E, Manero F, Khiati S, Girona A, Lopez-Lluch G, Navas P, Spinazzi M
Elife 2023 Jul 28;12 doi: 10.7554/eLife.84710. PMID: 37505079Free PMC Article
Lu JJ, Wu PF, He JG, Li YK, Long LH, Yao XP, Yang JH, Chen HS, Zhang XN, Hu ZL, Chen Z, Wang F, Chen JG
Mol Psychiatry 2023 Dec;28(12):5062-5076. Epub 2023 Mar 13 doi: 10.1038/s41380-023-02008-z. PMID: 36914810
Sandvoß M, Potthast AB, von Versen-Höynck F, Das AM
Reprod Sci 2017 Apr;24(4):568-574. Epub 2016 Sep 27 doi: 10.1177/1933719116667216. PMID: 27651178

Recent systematic reviews

Xuan X, Ruan J, Wu C, Gao Y, Li L, Lei X
CNS Neurosci Ther 2024 Mar;30(3):e14425. Epub 2023 Nov 6 doi: 10.1111/cns.14425. PMID: 37927170Free PMC Article
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C
Orphanet J Rare Dis 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. PMID: 25874378Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...