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Down Syndrome, tumor suppressor, mice experimentation


Behavioral Medicine | Medicine and Health Sciences | Oncology


Down syndrome, or trisomy 21, is the most common autosomal aneuploidy resulting in a number of phenotypes such as mental retardation, craniofacial bone differences, early onset of Alzheimer's disease, congenital heart failure, and notably an increased incidence of leukemia and a reduced incidence of solid tumors. This study investigated a hypothesized tumor suppressor gene responsible for the phenomenon of a decreased risk of solid tumors in individuals with Down syndrome. Genetically engineered mice that were either trisomic or monosomic for the 33 genes of the Down syndrome critical region or heterozygous for carbonyl reductase 1 were bred to mice susceptible to developing mammary tumors. The hypothesized numerically altered tumor suppressor genes on mouse chromosome 16, conserved with human chromosome 21, were expected to affect tumor growth and metastasis in the resultant mice when compared to their unaltered, wild type littermates. The mice were genotyped and assessed for tumor latency, multiplicity, and total tumor burden. Lungs were obtained for lung metastasis counts and analysis. Due to the relatively low sample sizes and qualitative data analysis, no definitive conclusions can be made; however, lack of trends indicative of a tumor suppressor gene affecting the experimental mice suggest this breast cancer model is unaffected by the theorized suppressors. Excluding the potential tumor suppressor genes in these models narrows the scope of the search for such a tumor suppressor. Efforts could be shifted toward other Down syndrome models in hopes of identifying a tumor suppressor gene that enables all people, not just those with Down syndrome, to be protected from the development and invasive progression of cancer through the upregulation of that specific gene.

Department 1 Awarding Honors Status


Creative Commons License

Creative Commons Attribution-Noncommercial 4.0 License
This work is licensed under a Creative Commons Attribution-Noncommercial 4.0 License