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Mitochondrial encephalomyopathy

MedGen UID:
57960
•Concept ID:
C0162666
•
Disease or Syndrome
Synonyms: Encephalomyopathies, Mitochondrial; Encephalomyopathy, Mitochondrial; Mitochondrial Encephalomyopathies; Mitochondrial Encephalomyopathy
SNOMED CT: Mitochondrial encephalomyopathy (447292006); Mitochondrial myoencephalopathy (447292006)
 
Monarch Initiative: MONDO:0004675
OMIM®: 516020; 590005; 590050; 590055; 590095

Definition

A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5) [from MONDO]

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
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes.
Koenig MK, Emrick L, Karaa A, Korson M, Scaglia F, Parikh S, Goldstein A
JAMA Neurol 2016 May 1;73(5):591-4. doi: 10.1001/jamaneurol.2015.5072. PMID: 26954033
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.
El-Hattab AW, Adesina AM, Jones J, Scaglia F
Mol Genet Metab 2015 Sep-Oct;116(1-2):4-12. Epub 2015 Jun 15 doi: 10.1016/j.ymgme.2015.06.004. PMID: 26095523

Recent clinical studies

Etiology

MELAS: Phenotype Classification into Classic-versus-Atypical Presentations.
Alves CAPF, Zandifar A, Peterson JT, Tara SZ, Ganetzky R, Viaene AN, Andronikou S, Falk MJ, Vossough A, Goldstein AC
AJNR Am J Neuroradiol 2023 May;44(5):602-610. Epub 2023 Apr 6 doi: 10.3174/ajnr.A7837. PMID: 37024306Free PMC Article
Cochlear Implantation in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome: Case Presentation.
Crundwell G, Kullar P, Bance M
J Int Adv Otol 2022 Jan;18(1):71-73. doi: 10.5152/iao.2022.21316. PMID: 35193849Free PMC Article
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 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
Movement disorders in mitochondrial diseases.
Tranchant C, Anheim M
Rev Neurol (Paris) 2016 Aug-Sep;172(8-9):524-529. Epub 2016 Jul 28 doi: 10.1016/j.neurol.2016.07.003. PMID: 27476418

Diagnosis

Mitochondrial encephalomyopathy.
Ng YS, McFarland R
Handb Clin Neurol 2023;195:563-585. doi: 10.1016/B978-0-323-98818-6.00025-X. PMID: 37562887
MELAS: Phenotype Classification into Classic-versus-Atypical Presentations.
Alves CAPF, Zandifar A, Peterson JT, Tara SZ, Ganetzky R, Viaene AN, Andronikou S, Falk MJ, Vossough A, Goldstein AC
AJNR Am J Neuroradiol 2023 May;44(5):602-610. Epub 2023 Apr 6 doi: 10.3174/ajnr.A7837. PMID: 37024306Free PMC Article
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
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 biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

Therapy

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
Therapeutic Potential of Citrulline as an Arginine Supplement: A Clinical Pharmacology Review.
Rashid J, Kumar SS, Job KM, Liu X, Fike CD, Sherwin CMT
Paediatr Drugs 2020 Jun;22(3):279-293. doi: 10.1007/s40272-020-00384-5. PMID: 32140997Free PMC Article
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.
El-Hattab AW, Adesina AM, Jones J, Scaglia F
Mol Genet Metab 2015 Sep-Oct;116(1-2):4-12. Epub 2015 Jun 15 doi: 10.1016/j.ymgme.2015.06.004. PMID: 26095523
Perspectives of drug-based neuroprotection targeting mitochondria.
Procaccio V, Bris C, Chao de la Barca JM, Oca F, Chevrollier A, Amati-Bonneau P, Bonneau D, Reynier P
Rev Neurol (Paris) 2014 May;170(5):390-400. Epub 2014 May 1 doi: 10.1016/j.neurol.2014.03.005. PMID: 24792485
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

Prognosis

MELAS: Phenotype Classification into Classic-versus-Atypical Presentations.
Alves CAPF, Zandifar A, Peterson JT, Tara SZ, Ganetzky R, Viaene AN, Andronikou S, Falk MJ, Vossough A, Goldstein AC
AJNR Am J Neuroradiol 2023 May;44(5):602-610. Epub 2023 Apr 6 doi: 10.3174/ajnr.A7837. PMID: 37024306Free PMC Article
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 encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
Matilainen S, Isohanni P, Euro L, Lönnqvist T, Pihko H, Kivelä T, Knuutila S, Suomalainen A
Eur J Hum Genet 2015 Mar;23(3):325-30. Epub 2014 Jul 2 doi: 10.1038/ejhg.2014.128. PMID: 24986829Free PMC Article
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795
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

Metabolic rescue ameliorates mitochondrial encephalo-cardiomyopathy in murine and human iPSC models of Leigh syndrome.
Yoon JY, Daneshgar N, Chu Y, Chen B, Hefti M, Vikram A, Irani K, Song LS, Brenner C, Abel ED, London B, Dai DF
Clin Transl Med 2022 Jul;12(7):e954. doi: 10.1002/ctm2.954. PMID: 35872650Free PMC Article
Modeling of mitochondrial bioenergetics and autophagy impairment in MELAS-mutant iPSC-derived retinal pigment epithelial cells.
Bhattacharya S, Yin J, Huo W, Chaum E
Stem Cell Res Ther 2022 Jun 17;13(1):260. doi: 10.1186/s13287-022-02937-6. PMID: 35715869Free PMC Article
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
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.
El-Hattab AW, Adesina AM, Jones J, Scaglia F
Mol Genet Metab 2015 Sep-Oct;116(1-2):4-12. Epub 2015 Jun 15 doi: 10.1016/j.ymgme.2015.06.004. PMID: 26095523
Mitochondrial biogenesis: pharmacological approaches.
Valero T
Curr Pharm Des 2014;20(35):5507-9. doi: 10.2174/138161282035140911142118. PMID: 24606795

Recent systematic reviews

Novel TARS2 variant identified in a Chinese patient with mitochondrial encephalomyopathy and a systematic review.
He P, Wang Q, Hong X, Yuan H
Am J Med Genet A 2023 Jan;191(1):70-76. Epub 2022 Oct 11 doi: 10.1002/ajmg.a.62988. PMID: 36218002
SUCLG1 mutations and mitochondrial encephalomyopathy: a case study and review of the literature.
Molaei Ramsheh S, Erfanian Omidvar M, Tabasinezhad M, Alipoor B, Salmani TA, Ghaedi H
Mol Biol Rep 2020 Dec;47(12):9699-9714. Epub 2020 Nov 23 doi: 10.1007/s11033-020-05999-y. PMID: 33230783

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