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.
KeywordsMaize Respiration Adduct Neuropathy Proline
Unable to display preview. Download preview PDF.
- 5.Yoneda M, Tanno S, Horai S, Ozawa T, Miyatake T, Tsuji S. 1990. A common mitochondrial DNA mutation in the t-RNALys of patients with myoclonus epilepsy associated with ragged-red fibers. Biochem Int 27:789–796.Google Scholar
- 12.Ozawa T, Tanaka M, Sugiyama S, Hattori K, Ito T, Ohno K, Takahashi A, Sato W, Takada G, Mayumi B, Yamamoto K, Adachi K, Koga Y, Toshima H. 1990. Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy. Biochem Biophys Res Commun 170:830–836.PubMedCrossRefGoogle Scholar
- 13.van den Ouweland JMW, Lemkes HHP, Ruitenbeek W, Sandkuijl LA, de Vijlder MF, Struyvenberg PAA, van de Kamp JJP, Maassen JA. 1992. Mutation in mitochondrial tRNAleu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nature Genet 1:368–371.PubMedCrossRefGoogle Scholar
- 24.Ozawa T, Katsumata K, Hayakawa M, Tanaka M, Sugiyama S, Tanaka T, Itoyama S, Nunoda S, Sekiguchi M. 1995. Genotype and phenotype of a severe mitochondrial cardiomyopathy: A recipient of heart transplantation and the genetic control. Biochem Biophys Res Commun, 207:613–620.PubMedCrossRefGoogle Scholar
- 31.Tzagoloff A. 1982. Mitochondrial Genetics, Mitochondria. New York: Plenum Press.Google Scholar
- 32.Ozawa T, Tanaka M, Sugiyama S, Ino H, Ohno K, Hattori K, Ohbayashi T, Ito T, Deguchi H, Kawamura K, Nakane Y, Hashiba K. 1991. Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson’s disease and mitochondrial encephalomyopathy. Biochem Biophys Res Commun 177:518–525.PubMedCrossRefGoogle Scholar