GENOTYPE AND PHENOTYPE OF SEVERE MITOCHONDRIAL CARDIOMYOPATHY - A RECIPIENT OF HEART-TRANSPLANTATION AND THE GENETIC-CONTROL

Comprehensive analyses of mitochondrial (mt)DNA of a recipient of hear t transplantation at age 7 because of severe cardiomyopathy revealed t hree germ line point mutations, each one in the 12S rRNA gene, in the CO1 gene and in the cytochrome b gene, respectively. As the somatic mu tation, extensive fragmentation of mtDNA associated with 212 kinds of deletions was detected in contrast to 5 kinds in an age-matched negati ve control. A recipient's positive control having almost the same base -substitutions and mutations with the recipient except one in the CO1 gene also developed severe cardiomyopathy died at age 20. The close re lation between phenotype and mtDNA genotype provides the basis of our understanding of cell death and premature ageing. (C) 1995 Academic Pr ess, Inc.