MELAS syndrome

Definition:

MELAS syndrome (Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) is a maternally inherited multisystem mitochondrial disorder. This disease is associated with mutations in mitochondrial DNA and a biochemical deficiency of respiratory chain complex I. About 80% of MELAS patients have an A3243G mutation in the MTTL1 gene. Other mutations in MTTL1, other mitochondrial tRNA genes, and the mitochondrial MTND subunit genes of complex I have also been reported to cause MELAS.

References:

[1]. Ayman W El-Hattab, et al. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab. 2015 Sep-Oct;116(1-2):4-12. [Content Brief]

[2]. Catherine Glatz, et al. Mutation in the mitochondrial tRNA(Val) causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes. Mitochondrion. 2011 Jul;11(4):615-9. [Content Brief]

[3]. D M Kirby, et al. Mutations of the mitochondrial ND1 gene as a cause of MELAS. J Med Genet. 2004 Oct;41(10):784-9. [Content Brief]

[4]. Hideyuki Hatakeyama, et al. Molecular pathomechanisms and cell-type-specific disease phenotypes of MELAS caused by mutant mitochondrial tRNA(Trp). Acta Neuropathol Commun. 2015 Aug 22;3:52. [Content Brief]

[5]. M G Hanna, et al. MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity. J Neurol Neurosurg Psychiatry. 1998 Oct;65(4):512-7. [Content Brief]

[6]. Yasutoshi Koga, et al. MELAS and L-arginine therapy: pathophysiology of stroke-like episodes. Ann N Y Acad Sci. 2010 Jul;1201:104-10. [Content Brief]

[7]. Yasutoshi Koga, et al. Molecular pathology of MELAS and L-arginine effects. Biochim Biophys Acta. 2012 May;1820(5):608-14. [Content Brief]

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