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Current Gerontology and Geriatrics Research
Volume 2012, Article ID 717315, 20 pages
Review Article

The Use of Mouse Models for Understanding the Biology of Down Syndrome and Aging

Eleanor Roosevelt Institute, Department of Biological Sciences, The University of Denver, 2101 E. Wesley Avenue, Denver, CO 80208, USA

Received 30 October 2011; Accepted 6 December 2011

Academic Editor: Elizabeth Head

Copyright © 2012 Guido N. Vacano et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Down syndrome is a complex condition caused by trisomy of human chromosome 21. The biology of aging may be different in individuals with Down syndrome; this is not well understood in any organism. Because of its complexity, many aspects of Down syndrome must be studied either in humans or in animal models. Studies in humans are essential but are limited for ethical and practical reasons. Fortunately, genetically altered mice can serve as extremely useful models of Down syndrome, and progress in their production and analysis has been remarkable. Here, we describe various mouse models that have been used to study Down syndrome. We focus on segmental trisomies of mouse chromosome regions syntenic to human chromosome 21, mice in which individual genes have been introduced, or mice in which genes have been silenced by targeted mutagenesis. We selected a limited number of genes for which considerable evidence links them to aspects of Down syndrome, and about which much is known regarding their function. We focused on genes important for brain and cognitive function, and for the altered cancer spectrum seen in individuals with Down syndrome. We conclude with observations on the usefulness of mouse models and speculation on future directions.