伴有线粒体DNA耗竭和呼吸酶缺陷的肥厚型心肌病

Hypertrophic cardiomyopathy with mitochondrial DNA depletion and respiratory enzyme defects.

作者信息

Marin-Garcia J, Ananthakrishnan R, Goldenthal M J

机构信息

Molecular Cardiology Institute, Highland Park, NJ 08904, USA.

出版信息

Pediatr Cardiol. 1998 May-Jun;19(3):266-8. doi: 10.1007/s002469900303.

DOI:10.1007/s002469900303

PMID:9568229

Abstract

We report the case of a child with severe hypertrophic cardiomyopathy, with decreased activity levels of cardiac mitochondrial respiratory complex I and III, and with a pronounced reduction in cardiac mitochondrial DNA copy number level. Mitochondrial DNA depletion has not been previously reported in hypertrophic cardiomyopathy and it may play a role in its pathogenesis.

摘要

我们报告了一例患有严重肥厚型心肌病的儿童病例，其心脏线粒体呼吸复合物I和III的活性水平降低，且心脏线粒体DNA拷贝数水平显著降低。此前在肥厚型心肌病中尚未报道过线粒体DNA耗竭的情况，它可能在其发病机制中起作用。