Hypertrophic cardiomyopathy mutations in the calponin-homology domain of ACTN2 affect actin binding and cardiomyocyte Z-disc incorporation

@inproceedings{Haywood2016HypertrophicCM,
  title={Hypertrophic cardiomyopathy mutations in the calponin-homology domain of ACTN2 affect actin binding and cardiomyocyte Z-disc incorporation},
  author={Natalie J. Haywood and Marcin Wolny and Brendan Rogers and Chi H. Trinh and Yu Shuping and Thomas A Edwards and Michelle Peckham},
  booktitle={The Biochemical journal},
  year={2016}
}
α-Actinin-2 (ACTN2) is the only muscle isoform of α-actinin expressed in cardiac muscle. Mutations in this protein have been implicated in mild to moderate forms of hypertrophic cardiomyopathy (HCM). We have investigated the effects of two mutations identified from HCM patients, A119T and G111V, on the secondary and tertiary structure of a purified actin binding domain (ABD) of ACTN2 by circular dichroism and X-ray crystallography, and show small but distinct changes for both mutations. We also… CONTINUE READING