DILATED
CARDIOMYOPATHY IN CHILDREN AND MITOCHONDRIAL DNA MUTATIONS
Li W1, Ma P-R2, Wang Y2, Han X-ZH2, Wang Y-L2
1Dept.
of Pediatrics, Qilu Hospital of Shandong University, Jinan, China
2Shandong
Provincial Hospital
Objective: To determine the role of mitochondrial DNA (mtDNA) point
mutation and deletions in the etiology of dilated cardiomyopathy (DCM) .
Methods: 15 child patients with DCM, 13 cases with acute myocarditis
(disease course less than 3 months) and 10 healthy children were
investigated. mtDNA point mutation was detected by PCR and heteroduplex
analysis. PCR was used to detect 5Kb and 7.4Kb mtDNA deletions.
Results:
mtDNA point mutation was detected in 6 cases (6/15, 40%) with DCM from
blood samples. Point mutations were found in a boy with familial DCM and
his asymptomatic mother. mtDNA point mutation also existed in 1 of 13
patients with acute myocarditis, but not founded in healthy children. All
children detected had 5Kb and 7.4Kb mtDNA deletions, but the amount of
deleted 5Kb mtDNA in DCM patients were higher than those of myocarditis
patients and healthy children（7.97%±3.51% , 2.5%±1.64% and 2.28% ± 1.76%，respectively, P < 0.05）.
Conclusion: mtDNA point mutations and deletions were associated with part
of DCM.