N-acetyl cysteine alleviates oxidative stress and protects mice from dilated cardiomyopathy caused by mutations in nuclear A-type lamins gene

Hum Mol Genet. 2018 Oct 1;27(19):3353-3360. doi: 10.1093/hmg/ddy243.

Abstract

Cardiomyopathy caused by lamin A/C gene (LMNA) mutations (hereafter referred as LMNA cardiomyopathy) is an anatomic and pathologic condition associated with muscular and electrical dysfunction of the heart, often leading to heart failure-related disability. There is currently no specific therapy available for patients that target the molecular pathophysiology of LMNA cardiomyopathy. We showed here an increase in oxidative stress levels in the hearts of mice carrying LMNA mutation, associated with a decrease of the key cellular antioxidant glutathione (GHS). Oral administration of N-acetyl cysteine, a GHS precursor, led to a marked improvement of GHS content, a decrease in oxidative stress markers including protein carbonyls and an improvement of left ventricular structure and function in a model of LMNA cardiomyopathy. Collectively, our novel results provide therapeutic insights into LMNA cardiomyopathy.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acetylcysteine / administration & dosage*
  • Acetylcysteine / metabolism
  • Animals
  • Antioxidants / administration & dosage
  • Antioxidants / metabolism
  • Cardiomyopathy, Dilated / drug therapy
  • Cardiomyopathy, Dilated / genetics*
  • Cardiomyopathy, Dilated / metabolism
  • Cardiomyopathy, Dilated / physiopathology
  • Disease Models, Animal
  • Glutathione / metabolism
  • Heart / drug effects
  • Heart / physiopathology
  • Heart Failure / drug therapy
  • Heart Failure / genetics*
  • Heart Failure / metabolism
  • Heart Failure / pathology
  • Heart Ventricles / drug effects
  • Heart Ventricles / physiopathology
  • Humans
  • Lamin Type A / genetics*
  • Mice
  • Mutation
  • Myocardium / pathology
  • Oxidative Stress / drug effects

Substances

  • Antioxidants
  • Lamin Type A
  • Lmna protein, mouse
  • Glutathione
  • Acetylcysteine