Molecular Mechnanismus of Hypoplastic Left Heart Syndrome (HLHS)


Förderkennzeichen

81Z2700202

Projektnummer

476

Institution
Universitätsklinikum Schleswig-Holstein
Projektleiter
Hans-Heiner Kramer
Standort
Hamburg/Kiel/Lübeck
Kurzbeschreibung

Hypoplastic left heart syndrome (HLHS) displays one of the most severe cardiac malformations that encompasses a spectrum of structural defects characterized by atresia or stenosis of the … 

Hypoplastic left heart syndrome (HLHS) displays one of the most severe cardiac malformations that encompasses a spectrum of structural defects characterized by atresia or stenosis of the aortic and mitral valve, as well as a hypoplasia of the left ventricle and aorta. In order to analyze genetic and transcriptomic changes potentially involved in the pathogenesis of HLHS, whole exome sequencing and RNA sequencing is performed on heart tissue samples from independent cases. To evaluate epigenetic alterations, DNA methylation profiles are being analyzed. Identified candidate genes are characterized using zebrafish model organism and furthermore, patient-specific inducible pluripotent stem cells are analyzed to provide a contribution for a better understanding of the etiology of HLHS.

Projektart
Standortprojekt
Stichwörter
hypoplastic left heart syndrome, DNA methylation, whole exome sequencing, zebrafish
Fördersumme
€ 445.266,19
Beginn
01.11.2014
Ende
31.12.2018