Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome.

ABSTRACT: Approximately 80% of cases of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) harbor a heteroplasmic m.3243A>G transition in the tRNA^{Leu (UUR)} (MTTL1) gene. We report a MELAS case with a rare heteroplasmic m.3243A>T mutation found by direct sequencing of MTTL1. This mutation has been previously reported in 5 cases, of which 2 cases had the MELAS phenotype. Our case also strengthens the hypothesis that the m.3243A>T mutation can cause the MELAS phenotype.

SUBMITTER: Ikeda T 

PROVIDER: S-EPMC6123423 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature