Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.

@article{Olson1998ActinMI,
  title={Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.},
  author={Timothy M. Olson and Virginia V. Michels and Stephen N. Thibodeau and Yun-Shen Tai and Mark T. Brookline Keating},
  journal={Science},
  year={1998},
  volume={280 5364},
  pages={
          750-2
        }
}
To test the hypothesis that actin dysfunction leads to heart failure, patients with hereditary idiopathic dilated cardiomyopathy (IDC) were examined for mutations in the cardiac actin gene (ACTC). Missense mutations in ACTC that cosegregate with IDC were identified in two unrelated families. Both mutations affect universally conserved amino acids in domains of actin that attach to Z bands and intercalated discs. Coupled with previous data showing that dystrophin mutations also cause dilated… 

The molecular biology of dilated cardiomyopathy

MUTATIONS IN SARCOMERE PROTEIN GENES AS A CAUSE OF DILATED CARDIOMYOPATHY

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The alpha-cardiac actin gene (ACTC) is identified as a novel disease gene in a pedigree suffering from familial hypertrophic cardiomyopathy (FHC), and linkage analyses of plausible candidate genes highly expressed in the adult human heart identified ACTC as the most likely disease gene.

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Novel Cardiac Troponin T Mutation as a Cause of Familial Dilated Cardiomyopathy

A novel missense mutation in the cardiac troponin T gene is identified by direct sequencing and confirmed by endonuclease restriction analysis in a large family with FDCM and appears that the phenotype, whether it be hypertrophy or dilatation, is determined by the specific mutation rather than the gene.

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This work suggests the classification of ACTC1 mutations based on the location of the resulting amino acid change in actin into three main groups: those affecting only the binding site of the myosin molecular motor, termed M-class mutations, and those affecting both theMyosin- and Tm-binding sites, called MT- class mutations.

Thin filament cardiomyopathies: A review of genetics, disease mechanisms, and emerging therapeutics

With mounting evidence that thin filament cardiomyopathies occur through a distinct mechanism, there is need for therapies targeting the unique, underlying mechanisms tailored for each patient depending on a given mutation.

Hypertrophy: Clinical Relevance of Genotype

The two major genes are those encoding β-myosin heavy chain (MYH7) and cardiac myosin binding protein C (MYBPC3) and the clinical relevance of these observations will be discussed.
...

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