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Gene found for neurofibromatosis.

Gene found for neurofibromatosis

When is a single gene not just a single gene? That's the riddle two research teams recently solved after a three-year hunt for the cause of neurofibromatosis, the disfiguring illness once identified as Elephant Man's desease.

In separate reports on July 13, Howard Hughes Medical Institute investigators announced that after several false starts, they had isolated the gene responsible for the illness, which afflicts some 100,000 Americans and causes uncontrolled proliferation of nerve cells that can result in lumpy growths under the skin or large tumors. The teams found that the gene contains three other genes within it, none of which appear to play a role in the illness, but which confounded efforts to find the actual culprit. Raymond L. White and his co-workers at the University of Utah School of Medicine in Salt Lake City reported their findings in CELL, and Francis S. Collins and his collaborators at the University of Michigan Medical Center in Ann Arbor detailed their study in SCIENCE.

Scientists in 1987 had found that the mutation responsible for neurofibromatosis lies within a region on chromosome 17 containing several hundred genes. They then narrowed their search to a small portion of the chromosome that had undergone a rare mishap in two patients -- a piece of it had broken off and traded places with a grament from another chromosome. The two teams isolated a total of three likely genes near the break point, but none were mutated in neurofibromatosis patients, which would indicate a link with the disease. However, a newly isolated larger gene near the fragmented region that contains the three others undergoes the telltale mulation, the reseachers now report.

The researchers say the isolated gene will enable physicians to diagnose the illness early and quickly treat life-threatening tumors. In addition, if scientists can identify how the protein normally produced by the gene can control cell growth, it may lead to the first drug treatment for the disorder.
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Publication:Science News
Date:Jul 28, 1990
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