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Newly-discovered role for Nf1 gene explains heart abnormalities associated with neurofibromatosis

(Philadelphia, PA) 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 one in every 4,000 births. The researchers believe their findings may result in new therapeutics for NF1, as well as provide validation of an animal model for the disease. Their findings will appear online today in advance of publication in the January issue of the journal Nature Genetics.

"We've known NF1 as primarily a problem among cells of the developing neural crest the part of the embryo that forms the peripheral nervous system," said Jonathan A. Epstein, MD, associate professor in the Cardiovascular Division of Penn's Department of Medicine. "NF1, however, is associated with cardiovascular problems, which our findings could explain by linking the loss of the Nf1 gene to abnormal function of endothelial cells."

In both endothelial and neural crest cells, the Nf1 gene encodes neurofibromin, a protein that suppresses the ras oncogene, thereby suppressing tumors. In endothelial cells, the authors showed that the ras oncogene also over-activates a protein, called NFATc1, which is related to heart valve development. Using tissue-specific gene activation, the researchers found that deactivating the Nf1 gene in the neural crest causes tumors, but not cardiac problems. Conversely, Nf1 function in the neural crest is not required for normal heart development.

"Our work shows that the Nf1 gene blocks the ras oncogene for different purposes in the d
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Contact: Greg Lester
lesterg@uphs.upenn.edu
215-349-5658
University of Pennsylvania School of Medicine
9-Dec-2002


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