Mutational analysis of the mitochondrial DNA detected in sudden death cases with cardiac hypertrophy

Comprehensive screening of mitochondrial DNA (mtDNA) was performed in sudden death cases with cardiac hypertrophy (SDCH), in order to evaluate the prevalence of mtDNA mutations in sudden death. Missense mutations detected only in SDCH were 18 alterations in 16 cases and 8 mutations were new. It was considered that these missense mutations in turn affected the ability of the essential components of the oxidative phosphorylation complexes. It may possibly be that these mutations are tended to have increased risk of SDCH compared to the controls. (C) 2011 Elsevier Ireland Ltd. All rights reserved.