Second Gene Responsible For Tuberous Sclerosis Complex ...( d author. We plan to now turn our eff...)

d author. "We plan to now turn our efforts toward comprehensive analysis of the mutations that occur in TSC1 and TSC2, understanding the function of the proteins these genes encode, and, particularly, development of animal models of both TSC1 and TSC2 disease. The idea is to then use the animal models to understand how the disease occurs and explore potential therapies." The gene identification project was a collaborative research effort carried out by scientists in Boston at Brigham and Women's Hospital and MIT, and in the UK and the Netherlands.

In the study, mutations in the TSC1 gene were identified in 42 TSC patients or families and in about half the mutation consisted of a deletion of 1 to 4 base pairs of DNA. The other patients had any one of a variety of abnormalities, including single base insertions, a larger deletion of 10 to 30 base pairs of DNA, or single base mutations. The type of mutation seen in the TSC1 gene resembles those seen in another tumor suppressor gene called p53 which has been linked to apoptosis, or programmed cell death, and has been called the "guardian of the genome."

"This finding has tremendous meaning for the future health and quality of life of so many individuals," said Vicky Holets Whittemore, Ph.D., Vice President for Medical and Scientific Affairs at the National Tuberous Sclerosis Association, which also supported the work. "We can now move toward diagnostic testing, as well as therapies for TSC. At the same time, we are optimistic that an understanding of how TSC develops will be important in improving our understanding of autism and seizure disorders not related to TSC."

The NINDS, one of the National Institutes of Health located in Bethesda, Maryland, is the nation's leading supporter of research on the brain and nervous system and a lead agency for the Congressionally designated Decade of the Brain. NHGRI oversees the NIH's role in the Human Genome Project, an international research effort to develop too
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Contact: Stephanie Clipper
smtp:clippers@ninds.nih.gov
301/496-5751
NIH/National Institute of Neurological Disorders and Stroke
8-Aug-1997

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