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Potential treatments for neurofibromatosis

Neurofibromatosis can leave its patients miserable and debilitated with chronic itching or pain from disfiguring tumors. Infants affected by the disease face possible paralysis or damage to the brain and other organs.

The disease frustrates doctors because there's no effective treatment even though the responsible gene was identified more than a decade ago. Currently little can be done to treat a disease that affects more people than cystic fibrosis, hereditary muscular dystrophy, Huntington's disease and Tay Sachs combined.

Now, however, research by IU School of Medicine scientist D. Wade Clapp, M.D., and his colleagues David A. Ingram, Jr., M.D. and Feng-Chun Yang, M.D., Ph.D., have identified a promising target to treat the symptoms of neurofibromatosis. They hope to begin preliminary testing in humans by the end of this year, and are experimenting with potential drug compounds now.

Dr. Clapp, professor of pediatrics and of microbiology and immunology, said one target of their efforts will be mast cells, which are immune system cells that are involved in asthma and allergic reactions. Mast cells play a role in neurofibromatosis because they also are involved in blood vessel formation -- and tumors need blood vessels in order to grow.

"We are beginning to have a better understanding of cell to cell interactions that lead to the development of tumors and are poised to answer some of the most perplexing questions that underlie neurofibromatosis," said Dr. Clapp.

"Our work may well be applicable to other types of tumors such as breast and ovarian cancers, because inflammatory cells play an important role in tumor formation in these malignancies."

Neurofibromatosis results from mutations in a gene called NF 1. In humans, NF 1 mutations resulting in neurofibromatosis occur in one in 4,000 births, equally affecting both sexes and all races and ethnicities. It is the most common neurological disorder caused by a single gene.
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Source:News-Medical.Net


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