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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

Understanding the molecular basis and pathogenesis of hereditary optic neuropathies: towards improved diagnosis and management.
Newman NJ, Yu-Wai-Man P, Biousse V, Carelli V
Lancet Neurol 2023 Feb;22(2):172-188. Epub 2022 Sep 22 doi: 10.1016/S1474-4422(22)00174-0. PMID: 36155660
Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".
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
Cerebral folate deficiency: Analytical tests and differential diagnosis.
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

Oxygen metabolism abnormality and Alzheimer's disease: An update.
Liu G, Yang C, Wang X, Chen X, Wang Y, Le W
Redox Biol 2023 Dec;68:102955. Epub 2023 Nov 8 doi: 10.1016/j.redox.2023.102955. PMID: 37956598Free PMC Article
Pathologically high intraocular pressure induces mitochondrial dysfunction through Drp1 and leads to retinal ganglion cell PANoptosis in glaucoma.
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
Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions.
Protasoni M, Zeviani M
Int J Mol Sci 2021 Jan 8;22(2) doi: 10.3390/ijms22020586. PMID: 33435522Free PMC Article
Parkinson's Disease: From Pathogenesis to Pharmacogenomics.
Cacabelos R
Int J Mol Sci 2017 Mar 4;18(3) doi: 10.3390/ijms18030551. PMID: 28273839Free PMC Article
Mitochondrial diseases.
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

Leigh syndrome.
Rahman S
Handb Clin Neurol 2023;194:43-63. doi: 10.1016/B978-0-12-821751-1.00015-4. PMID: 36813320
Histochemical and immunohistochemical staining methods to visualize mitochondrial proteins and activity.
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
Mitochondrial diseases.
Molnar MJ, Kovacs GG
Handb Clin Neurol 2017;145:147-155. doi: 10.1016/B978-0-12-802395-2.00010-9. PMID: 28987165
Mitochondrial diseases.
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
Mitochondrial cytopathies.
El-Hattab AW, Scaglia F
Cell Calcium 2016 Sep;60(3):199-206. Epub 2016 Mar 4 doi: 10.1016/j.ceca.2016.03.003. PMID: 26996063

Therapy

USP28 Serves as a Key Suppressor of Mitochondrial Morphofunctional Defects and Cardiac Dysfunction in the Diabetic Heart.
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
Drp1-dependent mitochondrial fission in cardiovascular disease.
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
Oxidative stress and diabetic retinopathy: Molecular mechanisms, pathogenetic role and therapeutic implications.
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
Disorders affecting vitamin B(6) metabolism.
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
Parkinson's Disease: From Pathogenesis to Pharmacogenomics.
Cacabelos R
Int J Mol Sci 2017 Mar 4;18(3) doi: 10.3390/ijms18030551. PMID: 28273839Free PMC Article

Prognosis

Sirtuin 2 deficiency aggravates ageing-induced vascular remodelling in humans and mice.
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
Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.
Manoli I, Gebremariam A, McCoy S, Pass AR, Gagné J, Hall C, Ferry S, Van Ryzin C, Sloan JL, Sacchetti E, Catesini G, Rizzo C, Martinelli D, Spada M, Dionisi-Vici C, Venditti CP
J Inherit Metab Dis 2023 Jul;46(4):554-572. Epub 2023 Jun 6 doi: 10.1002/jimd.12636. PMID: 37243446Free PMC Article
The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy.
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
Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".
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
Mitochondrial cytopathies.
El-Hattab AW, Scaglia F
Cell Calcium 2016 Sep;60(3):199-206. Epub 2016 Mar 4 doi: 10.1016/j.ceca.2016.03.003. PMID: 26996063

Clinical prediction guides

Raising NAD(+) Level Stimulates Short-Chain Dehydrogenase/Reductase Proteins to Alleviate Heart Failure Independent of Mitochondrial Protein Deacetylation.
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
COX17 acetylation via MOF-KANSL complex promotes mitochondrial integrity and function.
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
Mitochondrial defects caused by PARL deficiency lead to arrested spermatogenesis and ferroptosis.
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
BNIP3L/NIX-mediated mitophagy alleviates passive stress-coping behaviors induced by tumor necrosis factor-α.
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
HELLP Syndrome.
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

PGM3 insufficiency: a glycosylation disorder causing a notable T cell defect.
Yang L, Zerbato B, Pessina A, Brambilla L, Andreani V, Frey-Jakobs S, Fliegauf M, Barbouche MR, Zhang Q, Chiaradonna F, Proietti M, Du X, Grimbacher B
Front Immunol 2024;15:1500381. Epub 2024 Dec 24 doi: 10.3389/fimmu.2024.1500381. PMID: 39776909Free PMC Article
Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.
Tauchmannová K, Pecinová A, Houštěk J, Mráček T
Physiol Res 2024 Aug 31;73(Suppl 1):S243-S278. Epub 2024 Jul 17 doi: 10.33549/physiolres.935407. PMID: 39016153Free PMC Article
A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review.
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
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
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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