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Journal Nature to publish findings on link between two genetic disorders (5-24-00)

Ataxia-telangiectasia (A-T) and Nijmegen breakage syndrome (NBS) are recessive genetic disorders with several characteristics in common. Children who are born with either of these disorders are 1,000 times more susceptible to cancer, generally lymphoma and leukemia, than the general population. Yet, in a cruel twist of nature, they also are extremely sensitive to radiation, which means they cannot tolerate radiation treatments often given to other cancer patients.

Researchers at The University of Texas Health Science Center at San Antonio (UTHSC) have found a link between the two diseases, which could lead to better treatments for those affected.

In the Thursday, May 25, issue of Nature, Eva Y.-H. P. Lee, Ph.D., and colleagues in UTHSC’s Department of Molecular Medicine report their findings. Their paper is titled "A Functional Link Between Ataxia-telangiectasia and Nijmegen Breakage Syndrome." Dr. Lee’s research team is based at the Health Science Center’s Institute of Biotechnology.

"The finding that there is a connection between A-T and NBS helps us understand how cells coordinate important tasks such as halting cell proliferation and making repairs when the genome is damaged," Dr. Lee explained. "It also explains why two cancer-prone disorders have such a high degree of similarity at the cellular level, although the genes responsible for the two disorders are structurally different."

Although there is no effective treatment for A-T and NBS themselves, understanding how the cells deal with DNA damage (double-strand breaks) could lead to ways to make cancer cells more sensitive to radiation or chemotherapy by disabling the cells’ defense mechanisms, Dr. Lee said. This would render the cancer more treatable.

Dr. Lee and her lab have been involved in studies of A-T for several years. This specific project began in the spring of 1998, when it was initiated by Dr. Lee’s former graduate student, Frank Yuan, M.D., Ph.D., now a medical school faculty member in Taiwan. "We have received valuable reagents from our collaborators worldwide without which it would not have been possible to carry out the studies in a speedy fashion," she said. "This is truly a team project. It was only possible to submit the paper with the devotion of many of the graduate students and technical staff in the lab."

Two other papers demonstrating similar findings will be published in Nature. "It is satisfying to know that different groups can use different approaches and reach the same conclusion," Dr. Lee said.

The other authors of the paper are Song Zhao, Yi-Chinn Weng, Shyng-Shiou F. Yuan, Yi-Tzu Lin, Hao-Chi Hsu, Suh-Chin J. Lin, Elvira Gerbino and Mei-hua Song of the Department of Molecular Medicine at the Institute of Biotechnology; Malgorzata Zdzienicka of Leiden University, The Netherlands; Richard A. Gatti of The University of California at Los Angeles; Jerry W. Shay of The University of Texas Southwestern Medical Center; and Yosef Shiloh and Yael Ziv of Tel Aviv University, Israel.

Contact: Will Sansom or Jennifer Lorenzo