Scientists identify specific genes in the brain affected by fragile ...( Scientists have identified for the firs...)

Scientists have identified for the first time specific genes in the brain that are affected by the lack of FMRP the protein that is absent in individuals with fragile X syndrome, the most frequent cause of inherited mental retardation in humans. The finding, published in the Nov. 16 issue of the journal Cell, provides the first clear evidence that fragile X syndrome may be caused by the dysregulation of specific mRNA (messenger RNA) molecules and their encoded proteins. The research group included scientists from Emory University, the Rockefeller University, Duke University and the Howard Hughes Medical Institute.

"We expect these discoveries to elucidate the proximal cause of fragile X syndrome as well as to provide new targets for drug therapy ," said principal investigator Stephen T. Warren, Ph.D., W. T. Timmie professor and chairman of the department of human genetics at Emory University School of Medicine and a Howard Hughes Medical Institute investigator. The papers first authors are Emory School of Medicine investigators Victoria Brown, Ph.D., and Peng Jin, Ph.D. Dr. Jin also is a Howard Hughes Medical Institute associate.

Using DNA microarray "chip" technology, the scientists identified 432 mRNAs (expressed genes) from cells in the mouse brain that normally are associated with FMRP. When they compared these to cells derived from patients with fragile X syndrome, they identified 251 of those same mRNAs (approximately 2% of the expressed genes) that were dysregulated in the absence of FMRP.

Although scientists have known that FMRP is a protein that binds with RNA and is involved in the regulation of translation, they have not known until now the specific identify of the mRNAs associated with FMRP nor the consequences of the lack of FMRP for message translation. In related research, led by Robert B. Darnell, M.D., Ph.D., of The Rockefeller University, working with Dr. Warrens laboratory at Emory, the scientists discovered specific bind
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Contact: Holly Korschun
hkorsch@emory.edu
404-727-3990
Emory University Health Sciences Center
15-Nov-2001

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