Gene analysis finds ‘fingerprint’ of defects in heart development

Using a multiple-gene analysis technique, German researchers have gained new insights into specific genetic alterations that lead to congenital heart defects, according to a report in today’s rapid access issue of Circulation: Journal of the American Heart Association. The technique, called microarray analysis, allowed investigators to identify specific patterns of gene expression in the entire human genome associated with common types of congenital heart defects. They sought to demonstrate the feasibility of using gene array analysis to study congenital heart defects. But their findings could represent an early step toward developing effective strategies to improve the quality of life in children and adults with heart defects.

Gene Explains Heart Abnormalities Associated with Neurofibromatosis

While type 1 Neurofibromatosis (NF1) is primarily known to cause tumors of the nervous system, scientists were puzzled as to why patients with NF1 are also prone to cardiovascular problems such as hypertension and congenital heart disease. Researchers from the University of Pennsylvania School of Medicine have solved this particular part of the puzzle by showing how the Nf1 gene – which is mutated in those suffering from Neurofibromatosis – is also essential in endothelial cells, the cells that make up blood vessels.