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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

Thompson R, Jefferies J, Wang S, Pu WT, Takemoto C, Hornby B, Heyman A, Chin MT, Vernon HJ
J Inherit Metab Dis 2022 Jan;45(1):17-28. Epub 2021 Nov 10 doi: 10.1002/jimd.12453. PMID: 34713454
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
Pope S, Artuch R, Heales S, Rahman S
J Inherit Metab Dis 2019 Jul;42(4):655-672. Epub 2019 May 2 doi: 10.1002/jimd.12092. PMID: 30916789

Recent clinical studies

Etiology

Protasoni M, Zeviani M
Int J Mol Sci 2021 Jan 8;22(2) doi: 10.3390/ijms22020586. PMID: 33435522Free PMC Article
Wilson MP, Plecko B, Mills PB, Clayton PT
J Inherit Metab Dis 2019 Jul;42(4):629-646. Epub 2019 Mar 20 doi: 10.1002/jimd.12060. PMID: 30671974
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
Alston CL, Rocha MC, Lax NZ, Turnbull DM, Taylor RW
J Pathol 2017 Jan;241(2):236-250. Epub 2016 Nov 2 doi: 10.1002/path.4809. PMID: 27659608Free 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

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
Wilson MP, Plecko B, Mills PB, Clayton PT
J Inherit Metab Dis 2019 Jul;42(4):629-646. Epub 2019 Mar 20 doi: 10.1002/jimd.12060. PMID: 30671974
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
El-Hattab AW, Zarante AM, Almannai M, Scaglia F
Mol Genet Metab 2017 Nov;122(3):1-9. Epub 2017 Sep 18 doi: 10.1016/j.ymgme.2017.09.009. PMID: 28943110Free PMC Article

Clinical prediction guides

Fujita Y, Ito M, Ohsawa I
Arch Biochem Biophys 2020 Dec 15;696:108668. Epub 2020 Nov 11 doi: 10.1016/j.abb.2020.108668. PMID: 33188737
Zhao T, Goedhart C, Pfeffer G, Greenway SC, Lines M, Khan A, Innes AM, Shutt TE
Int J Mol Sci 2020 Nov 6;21(21) doi: 10.3390/ijms21218327. PMID: 33171986Free PMC Article
Ghosh S, Iadarola DM, Ball WB, Gohil VM
IUBMB Life 2019 Jul;71(7):791-801. Epub 2019 Feb 11 doi: 10.1002/iub.2018. PMID: 30746873Free PMC Article
Panchal K, Tiwari AK
Mitochondrion 2019 Jul;47:151-173. Epub 2018 Nov 5 doi: 10.1016/j.mito.2018.11.002. PMID: 30408594
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

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

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