Genes in congenital heart disease: atrioventricular valve formation.

I.C. Joziasse, J.J. van de Smagt, K. Smith, J. Bakkers, G.J. Sieswerda, B.J.M. Mulder, P.A. Doevendans

Onderzoeksoutput: Bijdrage aan wetenschappelijk tijdschrift/periodieke uitgaveArtikelWetenschappelijkpeer review

Samenvatting

Through the use of animal studies, many candidate genes (mainly encoding transcriptional factors and receptors) have been implicated in the development of congenital heart disease. Thus far, only a minority of these genes have been shown to carry mutations associated with congenital disease in humans, e.g., GATA 4, TBX-5, NOTCH1 and NKX2-5. Mutations in these genes can cause a variety of cardiac defects even within the same family. Conversely, similar phenotypes are observed for different gene mutations suggesting a common pathway. Multiple genes and genetic pathways have been related to atrioventricular valve formation, although most of these genes have not yet been demonstrated as causative in human atrioventricular valve defects. Key pathways include the epidermal growth factor receptor pathway and related interacting pathways, most importantly the pathway of UDP-glucose dehydrogenase, resulting ultimately in activation of Ras. Other examples of interacting pathways include that of Nodal/Cited2/Pitx2, Wnt, Notch and ECE. Further studies are needed to investigate the pathways which are crucial for atrioventricular valve formation in humans. Understanding the underlying molecular process of abnormal atrioventricular valve formation in patients with congenital heart disease may provide important insight, in the etiology and possibly into preventive or treatment regimes.
Originele taal-2Engels
Pagina's (van-tot)216-227
TijdschriftBasic Research in Cardiology
Volume103
Nummer van het tijdschrift3
DOI's
StatusGepubliceerd - 2008

Vingerafdruk

Duik in de onderzoeksthema's van 'Genes in congenital heart disease: atrioventricular valve formation.'. Samen vormen ze een unieke vingerafdruk.

Citeer dit