Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
An 80-year-old Mitochondrial Disease Patient with A3243G tRNALeu(UUR) Gene Presenting Cardiac Dysfunction as the Main Symptom
Takeo HIGASHIKATAJun KOYAMAHirohide SHIMADAMasahide YAZAKIMafumi OWAShu-ichi IKEDA
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2001 Volume 40 Issue 5 Pages 405-408

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Abstract

MELAS is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes, but cardiac involvement also frequently occurs. An 80-year-old female patient had been suffering from insulin-dependent diabetes mellitus and neurosensory hearing loss. At the age of 79 she suffered metabolic acidosis with persistent drowsiness and was subsequently found to have severe cardiac dysfunction. Muscle biopsy disclosed the presence of abnormal mitochondria, and the MELAS gene mutation (A3243G of the tRNALeu(UUR)) was demonstrated. It is noteworthy that this mitochondrial disease patient has survived until a great age, which shows the wide clinical spectrum of MELAS, especially in the age of onset.
(Internal Medicine 40: 405-408, 2001)

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