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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, 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

Parikh S, Goldstein A, Karaa A, Koenig MK, Anselm I, Brunel-Guitton C, Christodoulou J, Cohen BH, Dimmock D, Enns GM, Falk MJ, Feigenbaum A, Frye RE, Ganesh J, Griesemer D, Haas R, Horvath R, Korson M, Kruer MC, Mancuso M, McCormack S, Raboisson MJ, Reimschisel T, Salvarinova R, Saneto RP, Scaglia F, Shoffner J, Stacpoole PW, Sue CM, Tarnopolsky M, Van Karnebeek C, Wolfe LA, Cunningham ZZ, Rahman S, Chinnery PF
Genet Med 2017 Dec;19(12) Epub 2017 Jul 27 doi: 10.1038/gim.2017.107. PMID: 28749475Free PMC Article
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

Recent clinical studies

Etiology

Ng YS, Lim AZ, Panagiotou G, Turnbull DM, Walker M
Endocr Rev 2022 May 12;43(3):583-609. doi: 10.1210/endrev/bnab036. PMID: 35552684Free PMC Article
Riley LG, Nafisinia M, Menezes MJ, Nambiar R, Williams A, Barnes EH, Selvanathan A, Lichkus K, Bratkovic D, Yaplito-Lee J, Bhattacharya K, Ellaway C, Kava M, Balasubramaniam S, Christodoulou J
Mol Genet Metab 2022 Jan;135(1):63-71. Epub 2021 Dec 8 doi: 10.1016/j.ymgme.2021.12.001. PMID: 34991945
Feeney C, Gorman G, Stefanetti R, McFarland R, Turnbull D, Harding C, Sachdeva A
Neurourol Urodyn 2020 Nov;39(8):2253-2263. Epub 2020 Sep 24 doi: 10.1002/nau.24479. PMID: 32969525
Weiner JG, Lambert AN, Thurm C, Hall M, Soslow JH, Reimschisel TE, Bearl DW, Dodd DA, Feingold B, Godown J
J Pediatr 2020 Feb;217:46-51.e4. Epub 2019 Nov 8 doi: 10.1016/j.jpeds.2019.10.016. PMID: 31711761Free PMC Article
Feeney CL, Lim AZ, Fagan E, Blain A, Bright A, Maddison J, Devine H, Stewart J, Taylor RW, Gorman GS, Turnbull DM, Nesbitt V, McFarland R
BJOG 2019 Oct;126(11):1380-1389. Epub 2019 Mar 27 doi: 10.1111/1471-0528.15667. PMID: 30801962Free PMC Article

Diagnosis

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: 35188226
Nishida H, Nawano T, Fukuhara H, Takai S, Narisawa T, Kanno H, Yagi M, Yamagishi A, Sakurai T, Naito S, Kato T, Tsuchiya N
Transplant Proc 2022 Mar;54(2):267-271. Epub 2022 Jan 21 doi: 10.1016/j.transproceed.2021.12.033. PMID: 35074160
Riley LG, Nafisinia M, Menezes MJ, Nambiar R, Williams A, Barnes EH, Selvanathan A, Lichkus K, Bratkovic D, Yaplito-Lee J, Bhattacharya K, Ellaway C, Kava M, Balasubramaniam S, Christodoulou J
Mol Genet Metab 2022 Jan;135(1):63-71. Epub 2021 Dec 8 doi: 10.1016/j.ymgme.2021.12.001. PMID: 34991945
Klein IL, van de Loo KFE, Hoogeboom TJ, Janssen MCH, Smeitink JAM, van der Veer E, Verhaak CM, Custers JAE
Trials 2021 Mar 1;22(1):177. doi: 10.1186/s13063-021-05126-7. PMID: 33648576Free PMC Article
Lehtonen JM, Auranen M, Darin N, Sofou K, Bindoff L, Hikmat O, Uusimaa J, Vieira P, Tulinius M, Lönnqvist T, de Coo IF, Suomalainen A, Isohanni P
J Inherit Metab Dis 2021 Mar;44(2):469-480. Epub 2020 Sep 21 doi: 10.1002/jimd.12307. PMID: 32857451

Therapy

Nishida H, Nawano T, Fukuhara H, Takai S, Narisawa T, Kanno H, Yagi M, Yamagishi A, Sakurai T, Naito S, Kato T, Tsuchiya N
Transplant Proc 2022 Mar;54(2):267-271. Epub 2022 Jan 21 doi: 10.1016/j.transproceed.2021.12.033. PMID: 35074160
Klein IL, van de Loo KFE, Hoogeboom TJ, Janssen MCH, Smeitink JAM, van der Veer E, Verhaak CM, Custers JAE
Trials 2021 Mar 1;22(1):177. doi: 10.1186/s13063-021-05126-7. PMID: 33648576Free PMC Article
Hsieh VC, Niezgoda J, Sedensky MM, Hoppel CL, Morgan PG
Anesth Analg 2021 Oct 1;133(4):924-932. doi: 10.1213/ANE.0000000000005430. PMID: 33591116Free PMC Article
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
Koga Y, Povalko N, Inoue E, Nashiki K, Tanaka M
Mitochondrion 2019 Sep;48:11-15. Epub 2019 Feb 7 doi: 10.1016/j.mito.2019.02.001. PMID: 30738201

Prognosis

Viering DHHM, van Borselen MD, Deinum J, Bindels RJM, de Baaij JHF, Janssen MCH
J Hypertens 2022 May 1;40(5):940-946. Epub 2022 Feb 7 doi: 10.1097/HJH.0000000000003095. PMID: 35132040
Nishida H, Nawano T, Fukuhara H, Takai S, Narisawa T, Kanno H, Yagi M, Yamagishi A, Sakurai T, Naito S, Kato T, Tsuchiya N
Transplant Proc 2022 Mar;54(2):267-271. Epub 2022 Jan 21 doi: 10.1016/j.transproceed.2021.12.033. PMID: 35074160
Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, Tajika M, Matsuhashi T, Ichimoto K, Matsunaga A, Akiyama N, Ogawa-Tominaga M, Yatsuka Y, Nitta KR, Kishita Y, Fushimi T, Imai-Okazaki A, Ohtake A, Okazaki Y, Murayama K
Arch Dis Child Fetal Neonatal Ed 2022 May;107(3):329-334. Epub 2021 Oct 7 doi: 10.1136/archdischild-2021-321633. PMID: 34625524Free PMC Article
Imai-Okazaki A, Matsunaga A, Yatsuka Y, Nitta KR, Kishita Y, Sugiura A, Sugiyama Y, Fushimi T, Shimura M, Ichimoto K, Tajika M, Ogawa-Tominaga M, Ebihara T, Matsuhashi T, Tsuruoka T, Kohda M, Hirata T, Harashima H, Nojiri S, Takeda A, Nakaya A, Kogaki S, Sakata Y, Ohtake A, Murayama K, Okazaki Y
Int J Cardiol 2021 Oct 15;341:48-55. Epub 2021 Jul 21 doi: 10.1016/j.ijcard.2021.06.042. PMID: 34298071
McCormack SE, Xiao R, Kilbaugh TJ, Karlsson M, Ganetzky RD, Cunningham ZZ, Goldstein A, Falk MJ, Damrauer SM
Mol Genet Metab 2017 Jun;121(2):119-126. Epub 2017 Apr 19 doi: 10.1016/j.ymgme.2017.04.007. PMID: 28442181Free PMC Article

Clinical prediction guides

Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, Tajika M, Matsuhashi T, Ichimoto K, Matsunaga A, Akiyama N, Ogawa-Tominaga M, Yatsuka Y, Nitta KR, Kishita Y, Fushimi T, Imai-Okazaki A, Ohtake A, Okazaki Y, Murayama K
Arch Dis Child Fetal Neonatal Ed 2022 May;107(3):329-334. Epub 2021 Oct 7 doi: 10.1136/archdischild-2021-321633. PMID: 34625524Free PMC Article
Imai-Okazaki A, Matsunaga A, Yatsuka Y, Nitta KR, Kishita Y, Sugiura A, Sugiyama Y, Fushimi T, Shimura M, Ichimoto K, Tajika M, Ogawa-Tominaga M, Ebihara T, Matsuhashi T, Tsuruoka T, Kohda M, Hirata T, Harashima H, Nojiri S, Takeda A, Nakaya A, Kogaki S, Sakata Y, Ohtake A, Murayama K, Okazaki Y
Int J Cardiol 2021 Oct 15;341:48-55. Epub 2021 Jul 21 doi: 10.1016/j.ijcard.2021.06.042. PMID: 34298071
Feeney C, Gorman G, Stefanetti R, McFarland R, Turnbull D, Harding C, Sachdeva A
Neurourol Urodyn 2020 Nov;39(8):2253-2263. Epub 2020 Sep 24 doi: 10.1002/nau.24479. PMID: 32969525
Koga Y, Povalko N, Inoue E, Nashiki K, Tanaka M
Mitochondrion 2019 Sep;48:11-15. Epub 2019 Feb 7 doi: 10.1016/j.mito.2019.02.001. PMID: 30738201
Boal RL, Ng YS, Pickett SJ, Schaefer AM, Feeney C, Bright A, Taylor RW, Turnbull DM, Gorman GS, Cheetham T, McFarland R
J Clin Endocrinol Metab 2019 Jun 1;104(6):2057-2066. doi: 10.1210/jc.2018-00957. PMID: 30423112Free PMC Article

Recent systematic reviews

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
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: 35188226
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
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

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