CARDIAC MITOCHONDRIAL DYSFUNCTION AND DNA DEPLETION IN CHILDREN WITH HYPERTROPHIC CARDIOMYOPATHY

Citation
J. Maringarcia et al., CARDIAC MITOCHONDRIAL DYSFUNCTION AND DNA DEPLETION IN CHILDREN WITH HYPERTROPHIC CARDIOMYOPATHY, Journal of inherited metabolic disease, 20(5), 1997, pp. 674-680
Citations number
23
Categorie Soggetti
Endocrynology & Metabolism","Genetics & Heredity
ISSN journal
01418955
Volume
20
Issue
5
Year of publication
1997
Pages
674 - 680
Database
ISI
SICI code
0141-8955(1997)20:5<674:CMDADD>2.0.ZU;2-P
Abstract
Abnormalities in specific mitochondrial respiratory enzymes and DNA (m tDNA) have been reported in cardiomyopathy. In this study, we report 4 cases of severe hypertrophic cardiomyopathy (HCM) in which specific c ardiac mitochondrial enzyme activity defects were found, including com plex I (n=2), complex III(n=2), complex IV (n=2) and complex V (n=1). Other abnormalities were also noted including a marked depletion of mt DNA (n=1) and decreased content of subunit 2 of cytochrome c oxidase ( n=1). None of the mtDNA point mutations and common deletions previousl y found in association with cardiomyopathy were detected in these pati ents. These data indicate that specific respiratory enzyme activity de fects are frequently present in HCM. Also, our finding of a marked dep letion of mtDNA in 1 patient suggests that cardiac mtDNA depletion, pr eviously unreported in HCM, needs further examination in order to esta blish whether it plays a primary role in its pathogenesis.