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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

Clinical features, pathogenesis, and management of stroke-like episodes due to MELAS.
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
Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines.
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
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

Recent clinical studies

Etiology

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 medicine therapies: rationale, evidence, and dosing guidelines.
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
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

Blood biomarkers for assessment of mitochondrial dysfunction: An expert review.
Hubens WHG, Vallbona-Garcia A, de Coo IFM, van Tienen FHJ, Webers CAB, Smeets HJM, Gorgels TGMF
Mitochondrion 2022 Jan;62:187-204. Epub 2021 Nov 2 doi: 10.1016/j.mito.2021.10.008. PMID: 34740866
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
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 in children.
Rahman S
J Intern Med 2020 Jun;287(6):609-633. Epub 2020 Apr 7 doi: 10.1111/joim.13054. PMID: 32176382
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

Therapy

Developments in the Treatment of Leber Hereditary Optic Neuropathy.
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
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
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
Pearson syndrome: a multisystem mitochondrial disease with bone marrow failure.
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
Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.
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
Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention.
van de Wal MAE, Adjobo-Hermans MJW, Keijer J, Schirris TJJ, Homberg JR, Wieckowski MR, Grefte S, van Schothorst EM, van Karnebeek C, Quintana A, Koopman WJH
Brain 2022 Mar 29;145(1):45-63. doi: 10.1093/brain/awab426. PMID: 34849584Free 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

Clinical prediction guides

Pathogenic variants of the mitochondrial aspartate/glutamate carrier causing citrin deficiency.
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
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.
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
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 cardiomyopathy: pathophysiology, diagnosis, and management.
Meyers DE, Basha HI, Koenig MK
Tex Heart Inst J 2013;40(4):385-94. PMID: 24082366Free PMC Article
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
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

Electrolyte Disorders in Mitochondrial Cytopathies: A Systematic Review.
Viering DHHM, Vermeltfoort L, Bindels RJM, Deinum J, de Baaij JHF
J Am Soc Nephrol 2023 Nov 1;34(11):1875-1888. Epub 2023 Sep 6 doi: 10.1681/ASN.0000000000000224. PMID: 37678265Free PMC Article
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
Mitochondrial Disease and Hearing Loss in Children: A Systematic Review.
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
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

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