Of mice and men: molecular genetics of congenital heart disease

TY - JOUR

T1 - Of mice and men

T2 - molecular genetics of congenital heart disease

AU - Andersen, Troels Askhøj

AU - Troelsen, Karin de Linde Lind

AU - Larsen, Lars Allan

PY - 2014/4

Y1 - 2014/4

N2 - 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.

AB - 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.

U2 - 10.1007/s00018-013-1430-1

DO - 10.1007/s00018-013-1430-1

M3 - Journal article

C2 - 23934094

SN - 1023-294X

VL - 71

SP - 1327

EP - 1352

JO - EXS

JF - EXS

IS - 8

ER -