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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

Mitochondrial disease: genetics and management.
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 and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
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
Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.
Meyers DE, Basha HI, Koenig MK
Tex Heart Inst J 2013;40(4):385-94. PMID: 24082366Free PMC Article

Recent clinical studies

Etiology

Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
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
Mitochondrial disorders of the OXPHOS system.
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
Mitochondrial disease: genetics and management.
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 and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society.
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

Diagnosis

Mitochondrial Retinopathy.
Birtel J, von Landenberg C, Gliem M, Gliem C, Reimann J, Kunz WS, Herrmann P, Betz C, Caswell R, Nesbitt V, Kornblum C, Charbel Issa P
Ophthalmol Retina 2022 Jan;6(1):65-79. Epub 2021 Jul 10 doi: 10.1016/j.oret.2021.02.017. PMID: 34257060
Mitochondrial disease in adults: recent advances and future promise.
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
Cardiolipin, Mitochondria, and Neurological Disease.
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
Mitochondrial disease in children.
Rahman S
J Intern Med 2020 Jun;287(6):609-633. Epub 2020 Apr 7 doi: 10.1111/joim.13054. PMID: 32176382
Leigh syndrome: One disorder, more than 75 monogenic causes.
Lake NJ, Compton AG, Rahman S, Thorburn DR
Ann Neurol 2016 Feb;79(2):190-203. Epub 2015 Dec 15 doi: 10.1002/ana.24551. PMID: 26506407

Therapy

Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.
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
Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity.
Sharma R, Reinstadler B, Engelstad K, Skinner OS, Stackowitz E, Haller RG, Clish CB, Pierce K, Walker MA, Fryer R, Oglesbee D, Mao X, Shungu DC, Khatri A, Hirano M, De Vivo DC, Mootha VK
J Clin Invest 2021 Jan 19;131(2) doi: 10.1172/JCI136055. PMID: 33463549Free PMC Article
The mitochondrial epilepsies.
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
Hypoxia as a therapy for mitochondrial disease.
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
Propofol infusion syndrome.
Kam PC, Cardone D
Anaesthesia 2007 Jul;62(7):690-701. doi: 10.1111/j.1365-2044.2007.05055.x. PMID: 17567345

Prognosis

Mitochondrial Epilepsy, a Challenge for Neurologists.
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
Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.
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
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, Musumeci O, Pugliese A, Scarpelli M, Siniscalchi A, Spinazzola A, Tal G, Torres-Torronteras J, Vignatelli L, Zaidman I, Zoller H, Rinaldi R, Zeviani M
J Inherit Metab Dis 2021 Mar;44(2):376-387. Epub 2020 Sep 8 doi: 10.1002/jimd.12300. PMID: 32898308Free PMC Article
Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.
Meyers DE, Basha HI, Koenig MK
Tex Heart Inst J 2013;40(4):385-94. PMID: 24082366Free PMC Article
Mitochondrial disease and epilepsy.
Rahman S
Dev Med Child Neurol 2012 May;54(5):397-406. Epub 2012 Jan 28 doi: 10.1111/j.1469-8749.2011.04214.x. PMID: 22283595

Clinical prediction guides

Forecasting stroke-like episodes and outcomes in mitochondrial disease.
Ng YS, Lax NZ, Blain AP, Erskine D, Baker MR, Polvikoski T, Thomas RH, Morris CM, Lai M, Whittaker RG, Gebbels A, Winder A, Hall J, Feeney C, Farrugia ME, Hirst C, Roberts M, Lawthom C, Chrysostomou A, Murphy K, Baird T, Maddison P, Duncan C, Poulton J, Nesbitt V, Hanna MG, Pitceathly RDS, Taylor RW, Blakely EL, Schaefer AM, Turnbull DM, McFarland R, Gorman GS
Brain 2022 Apr 18;145(2):542-554. doi: 10.1093/brain/awab353. PMID: 34927673Free PMC Article
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network.
Hirano M, Carelli V, De Giorgio R, Pironi L, Accarino A, Cenacchi G, D'Alessandro R, Filosto M, Martí R, Nonino F, Pinna AD, Baldin E, Bax BE, Bolletta A, Bolletta R, Boschetti E, Cescon M, D'Angelo R, Dotti MT, Giordano C, Gramegna LL, Levene M, Lodi R, Mandel H, Morelli MC, Musumeci O, Pugliese A, Scarpelli M, Siniscalchi A, Spinazzola A, Tal G, Torres-Torronteras J, Vignatelli L, Zaidman I, Zoller H, Rinaldi R, Zeviani M
J Inherit Metab Dis 2021 Mar;44(2):376-387. Epub 2020 Sep 8 doi: 10.1002/jimd.12300. PMID: 32898308Free PMC Article
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
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
Mitochondrial disease and endocrine dysfunction.
Chow J, Rahman J, Achermann JC, Dattani MT, Rahman S
Nat Rev Endocrinol 2017 Feb;13(2):92-104. Epub 2016 Oct 7 doi: 10.1038/nrendo.2016.151. PMID: 27716753
Mitochondrial cardiomyopathy: pathophysiology, diagnosis, and management.
Meyers DE, Basha HI, Koenig MK
Tex Heart Inst J 2013;40(4):385-94. PMID: 24082366Free PMC Article

Recent systematic reviews

Mitochondrial disease registries worldwide: A scoping review.
Abdul-Fatah A, Esmaeilisaraji L, Juan CM, Holcik M
PLoS One 2022;17(10):e0276883. Epub 2022 Oct 27 doi: 10.1371/journal.pone.0276883. PMID: 36301904Free PMC Article
Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.
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
Cognitive functioning and mental health in mitochondrial disease: A systematic scoping review.
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
Systematic review of cognitive deficits in adult mitochondrial disease.
Moore HL, Blain AP, Turnbull DM, Gorman GS
Eur J Neurol 2020 Jan;27(1):3-17. Epub 2019 Oct 22 doi: 10.1111/ene.14068. PMID: 31448495Free PMC Article
Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis.
Rossignol DA, Frye RE
Mol Psychiatry 2012 Mar;17(3):290-314. Epub 2011 Jan 25 doi: 10.1038/mp.2010.136. PMID: 21263444Free PMC Article

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      Related information in GTR
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      Clinical tests in GTR
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