Mitochondrial DNA Mutations and Heart Failure
The cardiomyopathies have been considered to constitute a group of diseases in which the dominant feature is involvement of heart muscle itself. Because the clinical features vary considerably, ranging from asymptomatic patients to patients with incapacitating symptoms, cardiomyopathy (CM) has been considered to be a diagnosis of exclusion, and many etiological causes have been proposed, such as abnormal handling of calcium ion by the myocardium or the inheritance of susceptibility to development of CM. Recent studies on the molecular genetics of the myocardium revealed that a substantial number of the patients with primary CM of unknown etiology, except familiar CM with Menderian heredity, retain the various multigene mutations in mitochondrial (mt) DNA of myocardium, and thus could be diagnosed as mtCM . Point mutations in the β-myosin heavy chain (BMHC) gene were documented among patients with familial CM . In the case of mtCM, patients show maternal inheritance or often sporadic occurrence as does primary CM.
KeywordsMitochondrial Encephalomyopathy Familial Hypertrophic Cardiomyopathy Diffuse Hypokinesis Hydroxyl Radical Damage Oxygen Free Radical Species
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