Genome-wide expression profiling of A3243G MELAS patients in quest for potential disease-modifying target genes

Mitochondrial encephalomyopathies represent an expanding group of clinical as well as genetical heterogeneous disorders caused by mitochondrial DNA (mtDNA) mutations or nuclear gene defects. The heteroplasmic mtDNA mutation at np 3243 (3243 A>G) in the tRNALeu(UUR) gene gives rise to one of the most frequent mitochondrial diseases, the MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes). Affected patients present with a broad spectrum of clinical phenotypes, including features that comprise the name of the disorder such as mitochondrial encephalomyopathy, lactic acidosis an…