The study of mitochondrial DNA point mutation in children with dilated cardiomyopathy

Objective To study mitochondrial DNA (mtDNA) poin t mutation in children with dilated cardiomyopathy (DCM).Methods 15 sick children with DCM, 13 cases with acute myocarditis (sick for l ess than 3 months) and 10 healthy children were investigated and mtDNA point mutation w as detected by PCR and heteroduplex analysis. Results Mitochondrial DNA point mutation in the conservative area of 3108～3717 position was detected in 6 out of 15 cases(40 %) with DCM from blood samples, which was significantly higher than that in controls (P＜0.05）. Point mutation was found in a boy with familial DCM, and so was his moth er,which indicated matrilinear inheritance. Mitochondrial DNA point mutation als o existed in 1 of 13 patients with acute myocarditis, but none in healthy children. Conclusion Mitochondrial DNA point mutation was associated partly with DCM.