Nkx2-5 pathways and congenital heart disease; loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart block

Cell. 2004 Apr 30;117(3):373-86. doi: 10.1016/s0092-8674(04)00405-2.

Abstract

Human mutations in Nkx2-5 lead to progressive cardiomyopathy and conduction defects via unknown mechanisms. To define these pathways, we generated mice with a ventricular-restricted knockout of Nkx2-5, which display no structural defects but have progressive complete heart block, and massive trabecular muscle overgrowth found in some patients with Nkx2-5 mutations. At birth, mutant mice display a hypoplastic atrioventricular (AV) node and then develop selective dropout of these conduction cells. Transcriptional profiling uncovered the aberrant expression of a unique panel of atrial and conduction system-restricted target genes, as well as the ectopic, high level BMP-10 expression in the adult ventricular myocardium. Further, BMP-10 is shown to be necessary and sufficient for a major component of the ventricular muscle defects. Accordingly, loss of ventricular muscle cell lineage specification into trabecular and conduction system myocytes is a new mechanistic pathway for progressive cardiomyopathy and conduction defects in congenital heart disease.

Publication types

  • Comparative Study
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Acetylcholinesterase / metabolism
  • Aging
  • Animals
  • Animals, Newborn
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / pathology
  • Cell Lineage*
  • Electric Conductivity
  • Electrocardiography
  • Gene Deletion
  • Gene Expression
  • Gene Expression Profiling
  • Gene Targeting
  • Genes, Reporter
  • Heart Block / embryology
  • Heart Block / genetics*
  • Heart Block / physiopathology
  • Heart Defects, Congenital / complications
  • Heart Defects, Congenital / physiopathology*
  • Heart Ventricles / cytology
  • Homeobox Protein Nkx-2.5
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / metabolism*
  • Humans
  • Mice
  • Mice, Knockout
  • Myocytes, Cardiac / cytology
  • Reproducibility of Results
  • Time Factors
  • Transcription Factors / deficiency
  • Transcription Factors / genetics
  • Transcription Factors / metabolism*
  • Transcription, Genetic

Substances

  • Homeobox Protein Nkx-2.5
  • Homeodomain Proteins
  • Nkx2-5 protein, mouse
  • Transcription Factors
  • Acetylcholinesterase