UCSD researchers find genetic key to puzzling congenit...( evelops darkened areas in a swirled (m...)

Once most patients reach adulthood (late teen and beyond), the skin changes fade and may not be visible to the casual observer. Girls born with IP often have abnormally shaped teeth, bald patches on the scalp, and missing or deformed nails. Males who inherit the defective gene do not survive. IP is estimated to affect from one in 10,000 to one in 100,000. For further detail, visit the National Incontinentia Pigmenti Foundation Web site: http://imgen.bcm.tmc.edu/NIPF.

"This disorder is heartbreaking for parents," said Makris. "But it now will be possible to develop genetic tests that will be helpful in family planning. For example, a woman could choose to undergo in-vitro fertilization and have only those eggs implanted that are unaffected by the genetic condition."

Since Karin's discovery in late 1996 of IKK and its three sub-units alpha, beta and gamma showing that the IKK complex is responsible for controlling the body's inflammatory response, pharmaceutical companies worldwide have been working on the development of drugs to inhibit IKK. Such drugs are likely to be potent anti-inflammatory and anti-cancer agents. The IKK-gamma knockout mouse will be critical in testing the new drugs for side effects.

"This paper is an outstanding example of the importance of research using genetically engineered mice," said Michael Karin, Ph.D., professor of pharmacology and director of the Cancer Biology Program at UCSD Cancer Center. "The knockout mouse is probably the most powerful tool we have for understanding the function of novel genes."

A molecular biologist, Karin is one of the "hottest biomedical researchers of the 1990s" as listed by Science Watch, a publication that tracks trends and performance in basic research. Since
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Contact: Nancy Stringer
nstringer@ucsd.edu
619-543-6163
University of California - San Diego
15-Jun-2000