Trisomy 21 Research Breaks New Ground; Researchers Find That Symptoms Are Caused by Uncontrolled Dysregulation of Proteins in Cells; Non-Chromosome 21 Proteins Also Affected

Down's syndrome, also known as trisomy 21, is one of the most common genetic diseases. Researchers from the University of Geneva (UNIGE) and ETH Zurich (ETHZ) in Switzerland have recently analyzed the proteins of individuals with trisomy 21 for the first time: the goal was to improve our understanding of how a supernumerary copy of chromosome 21 can affect human development. Published online on October 31, 2017 in Nature Communications, the research shows that trisomy 21, far from only affecting the proteins encoded by the chromosome 21 genes, also impacts proteins encoded by genes located on other chromosomes. In fact, the cells are overwhelmed by the protein surplus generated by the triplicated genes, and cannot regulate the amount of proteins. These results provide new insight into Down's syndrome and its symptoms based on the study of proteins, revealing the different outcomes of an excess of chromosome 21 on cell behavior. The symptoms of Down's syndrome include facial dysmorphism, intellectual impairment, poor muscular tone, and congenital heart disease. The syndrome results from the presence of three chromosomes 21, which explains why research until now has focused on analyzing DNA and the transcriptome (all the messenger RNAs synthesized from genes of our genome). "Nevertheless," explains Dr. Stylianos E. Antonarakis, Honorary Professor in UNIGE's Faculty of Medicine, "the proteins are highly informative molecules because they are more closely linked to the clinical signs of the syndrome. Studying them makes it possible to posit new hypotheses about the cellular mechanisms disturbed by trisomy 21.” However, analyzing all the proteins from clinical samples is technically a very difficult task - which is why the UNIGE researchers joined forces with a team led by Professor Ruedi Aebersold from ETHZ, who is a world expert in proteome studies.
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