T. Higashikata et al., An 80-year-old mitochondrial disease patient with A3243G tRNA(Leu) ((UUR))gene presenting cardiac dysfunction as the main symptom, INTERN MED, 40(5), 2001, pp. 405-408
MELAS is characterized by mitochondrial myopathy, encephalopathy, lactic ac
idosis and stroke-like episodes, but cardiac involvement also frequently oc
curs. An 80-year-old female patient had been suffering from insulin-depende
nt diabetes mellitus and neurosensory hearing loss. At the age of 79 she su
ffered metabolic acidosis with persistent drowsiness and was subsequently f
ound to have severe cardiac dysfunction, Muscle biopsy disclosed the presen
ce of abnormal mitochondria, and the MELAS gene mutation (A3243G of the tRN
A(Leu(UUR))) was demonstrated. It is noteworthy that this mitochondrial dis
ease patient has survived until a great age, which shows the wide clinical
spectrum of MELAS, especially in the age of onset.