Gene diagnoics of Sudden death and its practise

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Upto last year, we have reported gene analysis of mitochondrial DNA (mtDNA) mutation. This year, we analyzed evolutional modification of the gene mutation with special reference to cardiomyopathy development. Following the routine methods of gene isolation and preparation of mtDNA from patients with HCM, DCM, other cardiac diseases and normal control subjects, In the present study, we added the gene analysis of D-loop to characterize genetic lineage of the patients after PCR amplification.In summary, 162 cases with cardiomyopathy (HCM, 112 and DCM, 50 cases), we identified MELAS type mutation, i.e, A3243G, in 4 cases (2.5%) but found no case in 168 subjects without the cardiomyopathies. After analyzing 4 cases with MELAS-type mutation, to our surprise, 10 cases with other type cardiomyopathies and 23 subjects without cardiomyopathy, we found all subjects with these MELAS mutation segregated to one family with the common D-loop (Shin et al, Am.J.Hum.Genet.200Q). Accordingly, these results suggest the common roots of MELAS patients.