A Restrictive Cardiomyopathy Mutation in an Invariant Proline at the Myosin Head/Rod Junction Enhances Head Flexibility and Function, Yielding Muscle Defects in Drosophila.

@article{Achal2016ARC,
  title={A Restrictive Cardiomyopathy Mutation in an Invariant Proline at the Myosin Head/Rod Junction Enhances Head Flexibility and Function, Yielding Muscle Defects in Drosophila.},
  author={Madhulika Achal and Adriana S. Trujillo and Girish C Melkani and Gerrie P. Farman and Karen Ocorr and M. Viswanathan and Gaurav Kaushik and Christopher S Newhard and Bernadette M Glasheen and Anju Melkani and Jennifer A. Suggs and Jeffrey R. Moore and Douglas M. Swank and Rolf Bodmer and Anthony Cammarato and Sanford I Bernstein},
  journal={Journal of molecular biology},
  year={2016},
  volume={428 11},
  pages={2446-2461}
}
An "invariant proline" separates the myosin S1 head from its S2 tail and is proposed to be critical for orienting S1 during its interaction with actin, a process that leads to muscle contraction. Mutation of the invariant proline to leucine (P838L) caused dominant restrictive cardiomyopathy in a pediatric patient (Karam et al., Congenit. Heart Dis. 3:138-43… CONTINUE READING