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Florida Researchers Discover Gene For Fatal Childhood Disease

GAINESVILLE---University of Florida researchers have identified the gene that causes a rare, fatal childhood disease, according to a report published in Today's issue (7/18) of the journal Nature.

While only 10 to 20 Americans have Chediak-Higashi syndrome, the gene's discovery could have far-reaching implications for tens of thousands of patients who suffer from cancer or autoimmune disorders such as lupus.

Children born with the syndrome have an inherited immune deficiency that weakens their ability to battle bacteria and viruses. They typically die by age 6 of infection or cancer, usually lymphoma or leukemia.

The gene normally acts as a master switch to regulate the transport of proteins within cells, said Dr. Stephen Kingsmore, a molecular geneticist at the Center for Mammalian Genetics at UF's College of Medicine. In Chediak-Higashi syndrome, the gene functions abnormally and many proteins fail to be delivered to their correct destinations within cells.

Scientists also believe this gene plays a role in regulating the spread and development of cancers in general, and in protecting against certain autoimmune disorders.

"This is significant for several reasons. Nobody knew what caused this fatal disease," Kingsmore said. "Now we can design a diagnostic test. And hopefully by understanding the gene we can forge better treatments for Chediak-Higashi syndrome, and in the long run offer genetic therapy for it."

People and mice who have Chediak-Higashi syndrome are much more susceptible to cancer, which spreads faster and more widely than in typical cancer patients, Kingsmore added.

A better understanding of the gene's role in the spread of cancer could lead to new medications or treatments for all cancer patients, he said.

Meanwhile, researchers discovered that mice with Chediak-Higashi syndrome are protected against some forms
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Contact: Larry Lansford
Larry_Lansford@SFA.UFL.EDU
University of Florida
18-Jul-1996


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