Degregori, James V PHD
University of Colorado Denver
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Down Syndrome as a systemic autophagy deficiency disorder
Degregori, James VThorburn, Andrew M
Although everyone with Down Syndrome (DS) has an extra copy of chromosome 21, each individual with DS experiences differences in disease susceptibility and severity. One example is the expansion of mutated blood stem cells that can eventually lead to leukemia, seen in only some children with DS. Here we test if the reason for these differences is variation in a cellular recycling program called autophagy, which is essential for promoting overall health in multiple tissues and is impaired in people with DS. We will also test if it is possible to restore autophagy in mouse models of DS by exercise and dietary supplementation and if this can block the expansion of the mutated stem cells. This study may provide a framework for manipulating an entirely different biological process in order to reduce the risk of disease that is associated with the extra chromosome 21 that defines DS.