Mutant mitochondrial DNA containing m.3243A>G mutation (m.3243A>G mtDNA)

The m.3243A>G mutation is a pathogenic point mutation in mitochondrial DNA (mtDNA), specifically affecting the MT-TL1 gene, which encodes the mitochondrial tRNA for leucine (tRNA^Leu(UUR)). This mutation involves an adenine-to-guanine transition at nucleotide position 3243 of mtDNA. It leads to defective tRNA function, impaired mitochondrial protein synthesis, and respiratory chain deficiency, resulting in a variety of clinical phenotypes including MELAS syndrome, MIDD, and cardiomyopathy. The mutation follows maternal inheritance and is diagnosed by detecting heteroplasmic levels of m.3243A>G in blood or tissues. Management is supportive, with L-arginine and taurine showing potential benefit.

Other names

m.3243A>G mutationMT-TL1 m.3243A>GMitochondrial tRNA Leu(UUR) m.3243A>G mutation

Not applicable, as this is a mutation, not a drug target. L-arginine may help prevent stroke-like episodes; Taurine supplementation has shown potential benefit.