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  • Nkx2-5 Pathways and Congeni...
    Pashmforoush, Mohammad; Lu, Jonathan T; Chen, Hanying; Amand, Tara St; Kondo, Richard; Pradervand, Sylvain; Evans, Sylvia M; Clark, Bob; Feramisco, James R; Giles, Wayne; Ho, Siew Yen; Benson, D.Woodrow; Silberbach, Michael; Shou, Weinian; Chien, Kenneth R

    Cell, 04/2004, Letnik: 117, Številka: 3
    Journal Article

    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.