Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNALeu(UUR)]

[摘要]

A heteroplasmic point mutation (transition A to G at position 3243 in the mitochondrial tRNA^Leu(UUR) gene is indicative for myo-encephalopathy with lactic acidosis and stroke-like episodes (MELAS). Decreased respiratory chain complex activities measured in different tissues from four patients with MELAS syndrome do not correlate with the proportion of mutated mitochondrial genome.

[学科分类] 生物化学/生物物理

[关键词] Myopathy;Encephalopathy;MELAS;Mitochondrial DNA mutation;Respiratory chain;bp;base pairs;CPEO;chronic progressive external opthalmoplegia;MELAS;mitochondrial myopathy;encephalopathy;lactic acidosis and stroke-like episodes;MERRF;myoclonic epilepsy with ragged red fibers;mt;mitochondrial