Of mice and men: molecular genetics of congenital heart disease.
Congenital heart disease (CHD) affects nearly 1 % of the population. It is a complex disease, which may be caused by multiple genetic and environmental factors. Studies in human genetics have led to the identification of more than 50 human genes, involved in isolated CHD or genetic syndromes, where CHD is part of the phenotype. Furthermore, mapping of genomic copy number variants and exome sequencing of CHD patients have led to the identification of a large number of candidate disease genes. Experiments in animal models, particularly in mice, have been used to verify human disease genes and to gain further insight into the molecular pathology behind CHD. The picture emerging from these studies suggest that genetic lesions associated with CHD affect a broad range of cellular signaling components, from ligands and receptors, across down-stream effector molecules to transcription factors and co-factors, including chromatin modifiers.
Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200, Copenhagen, Denmark.
Troels Askhøj
TA
Andersen
Karin de Linde Lind
Kde L
Troelsen
Lars Allan
LA
Larsen
D000818:Animals; D002869:Chromosome Aberrations; D056915:DNA Copy Number Variations / Q000235:genetics; D005796:Genes / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006331:Heart Diseases / Q000151:congenital* / Q000235:genetics*; D059446:Heterotaxy Syndrome / Q000235:genetics; D006801:Humans; D051379:Mice; D008954:Models, Biological; D008967:Molecular Biology / Q000379:methods*; D012518:Sarcomeres / Q000235:genetics; D015398:Signal Transduction / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
D014157:Transcription Factors