The emerging concept of mitochondrial cardiomyopathies

Morbidity circle of the mtDNA-related cardiomyopathies. The pathogenic mtDNA mutations associated with cardiomyopathy are shown. Numbers and surrounding letters refer to position and type of the mutated nucleotide. Mutations shown with an asterisk are still in the provisional status, indicating that only one group has reported the mutation and pathogenicity needs to be confirmed (see MITOMAP: A Human Mitochondrial Genome Database. Center for Molecular Medicine, Emory University, Atlanta, Ga, www.gen.emory.edu/mitomap.html , 1999).

The site of the mtDNA mutations associated with cardiomyopathy is illustrated in the generic cloverleaf of the tRNA gene for isoleucine (circled bases). The position in the cloverleaf secondary structure of other cardiomyopathy mutations in tRNAs is also shown (boxed base changes).