Understanding the molecular basis of cardiomyopathy

Am J Physiol Heart Circ Physiol. 2022 Feb 1;322(2):H181-H233. doi: 10.1152/ajpheart.00562.2021. Epub 2021 Nov 19.

Abstract

Inherited cardiomyopathies are a major cause of mortality and morbidity worldwide and can be caused by mutations in a wide range of proteins located in different cellular compartments. The present review is based on Dr. Ju Chen's 2021 Robert M. Berne Distinguished Lectureship of the American Physiological Society Cardiovascular Section, in which he provided an overview of the current knowledge on the cardiomyopathy-associated proteins that have been studied in his laboratory. The review provides a general summary of the proteins in different compartments of cardiomyocytes associated with cardiomyopathies, with specific focus on the proteins that have been studied in Dr. Chen's laboratory.

Keywords: cardiomyopathy; genetics; murine models; protein mutations; translational research.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / metabolism
  • Genetic Heterogeneity
  • Humans
  • Mutation
  • Myocytes, Cardiac / metabolism*
  • Myocytes, Cardiac / physiology