Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes (MELAS)
DOI:
https://doi.org/10.70409/rmhhut.v18i3.130Keywords:
lactic acidosis, mitochondrial encephalopathy, strokeAbstract
The disorder known as mitochondrial encephalopathy with lactic acidosis and stroke like episodes (MELAS) is one of the most extensively described mitochondrial diseases, and in most patients, it is associated with the m.3243 A > G mutation. Clinical onset typically occurs during childhood or early adolescence, presenting as a diverse multisystem disorder in which neurological alterations predominate, such as stroke like episodes, recurrent seizures, and cognitive impairment. Likewise, histopathological
examination of muscle tissue characteristically reveals the presence of ragged red fibers.
References
Seed LM, Dean A, Krishnakumar D, Phyu P, Horvath R, Harijan PD. Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature. Mol Genet Genomic Med. julio de 2022;10(7):e1955.
Yatsuga S, Povalko N, Nishioka J, Katayama K, Kakimoto N, Matsuishi T, et al. MELAS: a nationwide prospective cohort study of 96 patients in Japan. Biochim Biophys Acta. mayo de 2012;1820(5):619-24.
Gorman GS, Chinnery PF, DiMauro S, Hirano M, Koga Y, McFarland R, et al. Mitochondrial diseases. Nat Rev Dis Primer. 20 de octubre de 2016;2:16080.
Elliott HR, Samuels DC, Eden JA, Relton CL, Chinnery PF. Pathogenic Mitochondrial DNA Mutations Are Common in the General Population. Am J Hum Genet. 8 de agosto de 2008;83(2):254-60.
Wallace DC. Mitochondrial DNA in evolution and disease. Nature. 28 de julio de 2016;535(7613):498-500.
Lopriore P, Gomes F, Montano V, Siciliano G, Mancuso M. Mitochondrial Epilepsy, a Challenge for Neurologists. Int J Mol Sci. 30 de octubre de 2022;23(21):13216.
Pickett SJ, Grady JP, Ng YS, Gorman GS, Schaefer AM, Wilson IJ, et al. Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors. Ann Clin Transl Neurol. 7 de febrero de 2018;5(3):333-45.
Na JH, Lee YM. Diagnosis and Management of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome. Biomolecules. 28 de noviembre de 2024;14(12):1524.
Bindoff LA, Engelsen BA. Mitochondrial diseases and epilepsy. Epilepsia. septiembre de 2012;53 Suppl 4:92-7.
Cox BC, Pearson JY, Mandrekar J, Gavrilova RH. The clinical spectrum of MELAS and associated disorders across ages: a retrospective cohort study. Front Neurol. 2023;14:1298569.
El-Hattab AW, Adesina AM, Jones J, Scaglia F. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab. 1 de septiembre de 2015;116(1):4-12.
Ticci C, Sicca F, Ardissone A, Bertini E, Carelli V, Diodato D, et al. Mitochondrial epilepsy: a cross-sectional nationwide Italian survey. Neurogenetics. abril de 2020;21(2):87-96.
Barros CDS, Coutinho A, Tengan CH. Arginine Supplementation in MELAS Syndrome: What Do We Know about the Mechanisms? Int J Mol Sci. 24 de marzo de 2024;25(7):3629.
Gao R, Gu L, Zuo W, Wang P. Comprehensive predictors of drug-resistant epilepsy in MELAS: clinical, EEG, imaging, and biochemical factors. BMC Neurol. 14 de febrero de 2025;25(1):64.
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