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Scientists perform whole-genome, whole-brain study of Down syndrome

One out of every 1000 babies is born with Down syndrome, the result of receiving an extra copy of chromosome 21 (trisomy). Despite recent advances, scientists still do not know how this genome abnormality causes the brain defects associated with Down syndrome. In the December issue of Genome Research, Stylianos Antonarakis and colleagues from the Geneva University Medical School compare whole genome activity in the brains of trisomy mice to that of normal mice. The scientists detected an estimated 25,000 genes active in the mouse brain, 330 of which altered between trisomy and normal mice. In particular, the researchers found that a number of "ribosomal protein" genes, involved in manufacturing the cell's proteins, were less active in trisomy mice. These results provide a preliminary look at how the whole genome operates in the brain and suggest that protein manufacturing in the brain could be altered in Down syndrome patients.


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Contact: Emily Huang
huangep@cshl.org
516-367-8349
Cold Spring Harbor Laboratory
11-Dec-2000


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