Neurofibromatosis

Newly discovered role for Nf1 gene explained heart abnormalities

Published in Heart Disease Weekly, January 19th, 2003

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.

Type 1 neurofibromatosis affects many children, occurring in 1 in every 4000 births. The researchers believe their findings may result...

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Source: Heart Disease Weekly (2003-01-19)

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