RICE gets $1.1m from DOD to study neurofibromatosis

HOUSTON, July 6, 2004 -- More than 100,000 Americans suffer from the painful and debilitating genetic disorder known as neurofibromatosis, or NF, which causes tumors to grow in various types of nerve tissue throughout the body. But while the cause of the disease is well-known -- a mutation in the gene known as NF1 -- nagging questions remain about the biochemical processes that govern the illness. Why, for instance, are some patients more severely affected than others, and why do tumors tend to target different organs in different patients?

"In other studies of genetic disorders, questions like these have been answered by studying the disease in a model system, an organism that is much more genetically tractable than humans," said Michael Stern, professor of biochemistry and cell biology at Rice University. "We've developed a fruit fly model for neurofibromatosis that we're using to identify key proteins that regulate NF in humans. Ultimately, we hope drug companies can use these proteins as targets for new drugs that will limit or eliminate NF-tumor growth in people."

Stern's team has received a new four-year, $1.1 million grant from the Department of Defense Neurofibromatosis Research Program to develop the fruit fly model for neurofibromatosis and to test several key proteins it has already identified as playing a key role in NF.

For example, the fruit fly NF1 gene is very similar to its human counterpart, and Stern's previous work has shown that fruit flies lacking the NF1 gene or any of five additional genes suffer from tumors in the peripheral nerves that are similar to those found in people with NF.

Stern's group is using the grant to conduct experiments to determine whether NF1 regulates peripheral nerve growth by activating a molecule called protein kinase A. If so, the molecule, known as PKA, might be a useful drug target.

Another aspect of the research involves a search for NF-like tumor growth in dozens of strains

Contact: Jade Boyd
Rice University

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