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Mitochondrial disease

MedGen UID:
155901
Concept ID:
C0751651
Disease or Syndrome
Synonyms: Mitochondrial diseases; Mitochondrial disorder; Mitochondrial Disorders
SNOMED CT: Mitochondrial disease (240096000)
 
Genes (locations): MT-ND1; MT-ND4; MT-ND5; MT-ND6; MT-TA; MT-TC; MT-TD; MT-TF; MT-TH; MT-TK; MT-TL1; MT-TL2; MT-TM; MT-TQ; MT-TR; MT-TS1; MT-TS2; MT-TT; MT-TV; MT-TW; MT-TY
Related genes: MGME1, ATPAF2, TWNK, TMEM70, RRM2B, FBXL4, LRPPRC, SUCLA2, SUCLG1, PDHX, TFAM, SURF1, SDHA, SCN4A, PDHB, PDHA1, PC, NDUFS4, TRNN, RNR1, COX1, ATP6, MPV17, DLD, DLAT, DGUOK, BCS1L, ATP5F1E
 
Monarch Initiative: MONDO:0044970
Orphanet: ORPHA68380

Definition

Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Mitochondrial disease in Orphanet.

Professional guidelines

PubMed

Tetsuka S, Ogawa T, Hashimoto R, Kato H
Metab Brain Dis 2021 Dec;36(8):2181-2193. Epub 2021 Jun 12 doi: 10.1007/s11011-021-00772-x. PMID: 34118021
Barcelos I, Shadiack E, Ganetzky RD, Falk MJ
Curr Opin Pediatr 2020 Dec;32(6):707-718. doi: 10.1097/MOP.0000000000000954. PMID: 33105273Free PMC Article
Ng YS, Turnbull DM
J Neurol 2016 Jan;263(1):179-91. Epub 2015 Aug 28 doi: 10.1007/s00415-015-7884-3. PMID: 26315846Free PMC Article

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
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
Barcelos I, Shadiack E, Ganetzky RD, Falk MJ
Curr Opin Pediatr 2020 Dec;32(6):707-718. doi: 10.1097/MOP.0000000000000954. PMID: 33105273Free PMC Article
Rahman J, Rahman S
Lancet 2018 Jun 23;391(10139):2560-2574. Epub 2018 Jun 18 doi: 10.1016/S0140-6736(18)30727-X. PMID: 29903433
Ng YS, Turnbull DM
J Neurol 2016 Jan;263(1):179-91. Epub 2015 Aug 28 doi: 10.1007/s00415-015-7884-3. PMID: 26315846Free PMC Article

Diagnosis

Ng YS, Bindoff LA, Gorman GS, Klopstock T, Kornblum C, Mancuso M, McFarland R, Sue CM, Suomalainen A, Taylor RW, Thorburn DR, Turnbull DM
Lancet Neurol 2021 Jul;20(7):573-584. doi: 10.1016/S1474-4422(21)00098-3. PMID: 34146515
Falabella M, Vernon HJ, Hanna MG, Claypool SM, Pitceathly RDS
Trends Endocrinol Metab 2021 Apr;32(4):224-237. Epub 2021 Feb 24 doi: 10.1016/j.tem.2021.01.006. PMID: 33640250Free PMC Article
Rahman S
J Intern Med 2020 Jun;287(6):609-633. Epub 2020 Apr 7 doi: 10.1111/joim.13054. PMID: 32176382
Parikh S, Goldstein A, Koenig MK, Scaglia F, Enns GM, Saneto R, Anselm I, Cohen BH, Falk MJ, Greene C, Gropman AL, Haas R, Hirano M, Morgan P, Sims K, Tarnopolsky M, Van Hove JL, Wolfe L, DiMauro S
Genet Med 2015 Sep;17(9):689-701. Epub 2014 Dec 11 doi: 10.1038/gim.2014.177. PMID: 25503498Free PMC Article
Meyers DE, Basha HI, Koenig MK
Tex Heart Inst J 2013;40(4):385-94. PMID: 24082366Free PMC Article

Therapy

Chen BS, Yu-Wai-Man P, Newman NJ
Curr Neurol Neurosci Rep 2022 Dec;22(12):881-892. Epub 2022 Nov 21 doi: 10.1007/s11910-022-01246-y. PMID: 36414808Free PMC Article
Zweers H, van Wegberg AMJ, Janssen MCH, Wortmann SB
Orphanet J Rare Dis 2021 Jul 3;16(1):295. doi: 10.1186/s13023-021-01927-w. PMID: 34217336Free PMC Article
Lim A, Thomas RH
Eur J Paediatr Neurol 2020 Jan;24:47-52. Epub 2020 Jan 7 doi: 10.1016/j.ejpn.2019.12.021. PMID: 31973983
Jain IH, Zazzeron L, Goli R, Alexa K, Schatzman-Bone S, Dhillon H, Goldberger O, Peng J, Shalem O, Sanjana NE, Zhang F, Goessling W, Zapol WM, Mootha VK
Science 2016 Apr 1;352(6281):54-61. Epub 2016 Feb 25 doi: 10.1126/science.aad9642. PMID: 26917594Free PMC Article
Kam PC, Cardone D
Anaesthesia 2007 Jul;62(7):690-701. doi: 10.1111/j.1365-2044.2007.05055.x. PMID: 17567345

Prognosis

Lopriore P, Gomes F, Montano V, Siciliano G, Mancuso M
Int J Mol Sci 2022 Oct 30;23(21) doi: 10.3390/ijms232113216. PMID: 36362003Free PMC Article
Yoshimi A, Ishikawa K, Niemeyer C, Grünert SC
Orphanet J Rare Dis 2022 Oct 17;17(1):379. doi: 10.1186/s13023-022-02538-9. PMID: 36253820Free PMC Article
Tavoulari S, Lacabanne D, Thangaratnarajah C, Kunji ERS
Trends Endocrinol Metab 2022 Aug;33(8):539-553. Epub 2022 Jun 17 doi: 10.1016/j.tem.2022.05.002. PMID: 35725541Free PMC Article
Stenton SL, Zou Y, Cheng H, Liu Z, Wang J, Shen D, Jin H, Ding C, Tang X, Sun S, Han H, Ma Y, Zhang W, Jin R, Wang H, Sun D, Lv JL, Prokisch H, Fang F
Ann Neurol 2022 Apr;91(4):466-482. Epub 2022 Mar 6 doi: 10.1002/ana.26313. PMID: 35094435
Meyers DE, Basha HI, Koenig MK
Tex Heart Inst J 2013;40(4):385-94. PMID: 24082366Free PMC Article

Clinical prediction guides

Tavoulari S, Lacabanne D, Thangaratnarajah C, Kunji ERS
Trends Endocrinol Metab 2022 Aug;33(8):539-553. Epub 2022 Jun 17 doi: 10.1016/j.tem.2022.05.002. PMID: 35725541Free PMC Article
Stenton SL, Zou Y, Cheng H, Liu Z, Wang J, Shen D, Jin H, Ding C, Tang X, Sun S, Han H, Ma Y, Zhang W, Jin R, Wang H, Sun D, Lv JL, Prokisch H, Fang F
Ann Neurol 2022 Apr;91(4):466-482. Epub 2022 Mar 6 doi: 10.1002/ana.26313. PMID: 35094435
Ganetzky RD, Stendel C, McCormick EM, Zolkipli-Cunningham Z, Goldstein AC, Klopstock T, Falk MJ
Hum Mutat 2019 May;40(5):499-515. Epub 2019 Mar 4 doi: 10.1002/humu.23723. PMID: 30763462Free PMC Article
Meyers DE, Basha HI, Koenig MK
Tex Heart Inst J 2013;40(4):385-94. PMID: 24082366Free PMC Article
Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, Milone M, Cohen BH, Wical B, Ganesh J, Basinger AA, Burton BK, Swoboda K, Gilbert DL, Vanderver A, Saneto RP, Maranda B, Arnold G, Abdenur JE, Waters PJ, Copeland WC
Hum Mutat 2008 Sep;29(9):E150-72. doi: 10.1002/humu.20824. PMID: 18546365Free PMC Article

Recent systematic reviews

Roesch S, O'Sullivan A, Zimmermann G, Mair A, Lipuš C, Mayr JA, Wortmann SB, Rasp G
Laryngoscope 2022 Dec;132(12):2459-2472. Epub 2022 Feb 21 doi: 10.1002/lary.30067. PMID: 35188226Free PMC Article
Zweers H, van Wegberg AMJ, Janssen MCH, Wortmann SB
Orphanet J Rare Dis 2021 Jul 3;16(1):295. doi: 10.1186/s13023-021-01927-w. PMID: 34217336Free PMC Article
Klein IL, van de Loo KFE, Smeitink JAM, Janssen MCH, Kessels RPC, van Karnebeek CD, van der Veer E, Custers JAE, Verhaak CM
Neurosci Biobehav Rev 2021 Jun;125:57-77. Epub 2021 Feb 11 doi: 10.1016/j.neubiorev.2021.02.004. PMID: 33582231
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
Sofou K
J Child Neurol 2013 May;28(5):663-7. Epub 2013 Mar 25 doi: 10.1177/0883073813481622. PMID: 23529909

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