An 80-year-old mitochondrial disease patient with A3243G tRNA(Leu) ((UUR))gene presenting cardiac dysfunction as the main symptom

Citation
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
Citations number
13
Language
INGLESE
art.tipo
Article
Categorie Soggetti
General & Internal Medicine
Journal title
INTERNAL MEDICINE
ISSN journal
0918-2918 → ACNP
Volume
40
Issue
5
Year of publication
2001
Pages
405 - 408
Database
ISI
SICI code
0918-2918(200105)40:5<405:A8MDPW>2.0.ZU;2-L
Abstract
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.