Lactic acidosis stroke-like episodes

MELAS Mitochondrial encephalopathy, lactic acidosis, stroke-like episodes... 

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes (MELAS) Mitochondrial tRNA (leu)... 

MELAS (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) resuits from a point mutation in the mitochondriai tRNA gene. 

The clinical symptoms of mitochondrial diseases are highly varied and include seizures, vomiting, deafness, dementia, stroke-like episodes, and short stature. Although there are many types of mitochondrial disorders, four of the most common types are as follows Kearns-Sayre syndrome, Leber s hereditary optic atrophy, MELAS (mitochondrial encephalopathy, lactic acidosis and stroke-like episodes) and MERRE (myoclonic epilepsy with ragged red fibres). 

Al. Abe, K., Fujimura, H., Nishikawa, Y., Yorifuji, S., Mezaki, T., Hirono, N., Nishitani, N., and Kameyama, M., Marked reduction in CSF lactate and pyruvate levels after CoQ therapy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Acta Neurol. Scand. 83, 356-359 (1991). 

Cll. Chomyn, A., Enriquez, J. A., Micol, V., Fernandez-Silva, P., and Attardi, G., The Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial 1 k A1 11 k i mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes. J. Biol. Chem. 275, 19198—19209 (2000). 

K3. King, M. P., Koga, Y., Davidson, M., and Schon, E. A., Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNALe (UUR> mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Mol. Cell. Biol. 12, 480-490 (1992). 

L12. Liou, C. W., Huang, C. C., Lin, T. K., Tsai, J. L., and Wei, Y. H., Correction of pancreatic /3-cell dysfunction with coenzyme Qio in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome and diabetes mellitus. Eur. Neurol. 43, 54-55 (2000). 

MELAS (mitochondrial myopathy, encephalo-myopathy, lactic acidosis, and stroke-like episodes) Progressive neurodengenerative disease characterized by stoke-like episodes first occurring between 5 and 15 years of age and a mitochondrial myopathy 80-90% mutations in tRNA "... 

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