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Model found to determine cause, possible treatment of nerve tumors
Date:2/4/2008

hers worked with mice that were genetically engineered for expression of a gene called Desert Hedgehog (Dhh) using a genetic trick to cause Nf1 mutation only in cells that express that gene. Again, the researchers discovered that by mutating both Nf1 genes at 12.5 days post conception in developing nerve cells, the resulting adult mice developed neurofibromas and had shorter life spans than their littermates whose genes were not mutated. If the mutations occurred earlier or later than 12.5 days, in both sets of experiments neurofibroma cells did not begin to form.

Dr. Ratner and her colleagues report that because nerves from patients with Neurofibromatosis type 1 have not been analyzed, direct comparisons between disease formation in humans and mice can not yet be made.

Neurofibromatosis 1 is an autosomal dominant inherited disease, which means the gene mutation only needs to occur in one chromosome for a person to get the disease. Disease symptoms may be evident at birth, during infancy and almost always by the time a child is 10 years old. The condition affects one of every 3,000 people worldwide with nearly 90 percent of the patients developing neurofibromas. Many NF1 patients conduct normal lives with the disease, with the primary manifestation being numerous soft brown pigment spots on the skin, and numerous tumors that are very small under the skin. Other patients, however, develop learning disabilities, scoliosis, and benign brain tumors as children, and are at risk for cardiovascular problems and malignant tumors as adults. Cincinnati Childrens has a leading multi-disciplinary clinic for diagnosis and management of NF1.


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Contact: Nick Miller
513-803-6035
Cincinnati Children's Hospital Medical Center
Source:Eurekalert

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