Cardiomyopathies and mitochondrial DNA mutations.
Our former studies concerning mitochondrial DNA mutations were reviewed in this article. A 7.4 kb deletion between the D-loop and ATPase 6 genes was detected in myocardial tissue obtained at autopsy from patients with myocardial infarction, diabetes mellitus and also patients treated with adriamycin. A case with diabetes mellitus and hypertrophic cardiomyopathy is demonstrated which revealed a point mutation from adenine to guanine at position 3243 within tRNA Leu(UUR).
Takeda
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Department of Internal Medicine, Aoto Hospital, Jikei University School of Medicine, Tokyo, Japan.
D000251:Adenosine Triphosphatases / Q000235:genetics; D009202:Cardiomyopathies / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000235:genetics*; D003920:Diabetes Mellitus / Q000235:genetics*; D004317:Doxorubicin / Q000627:therapeutic use; D004452:Echocardiography; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007328:Insulin / Q000235:genetics; D008875:Middle Aged; D009154:Mutation; D009203:Myocardial Infarction / Q000235:genetics*; D009369:Neoplasms / Q000188:drug therapy; D017354:Point Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D012356:RNA, Transfer, Leu / Q000235:genetics*; D016276:Ventricular Function
D004272:DNA, Mitochondrial; D007328:Insulin; D012356:RNA, Transfer, Leu; D004317:Doxorubicin; D000251:Adenosine Triphosphatases