Genes related to Down syndrome might help us study cancer development

Recent discovery finds people with Down syndrome have a lower probability of developing solid tumors. 

Down syndrome is a genetic disorder caused by the presence of extra genetic material from chromosome 21. It causes developmental delays, cognitive impairment, mild to moderate intellectual disability, heart defects, abnormal muscle development, and other clinical anomalies, including neurological issues. 

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Scientists from Stanley Manne Children’s Research Institute at Ann & Robert H. Lurie Children’s Hospital of Chicago discovered that impairment in the same set of genes that causes Down syndrome in people might also protect them from developing solid tumors. The study, published in Scientific Reports, is authored by senior author Vasil Galat, Ph.D., Director of Human iPS and Stem Cell Core at Manne Research Institute at Lurie Children’s and Research Assistant Professor of Pathology at Northwestern University Feinberg School of Medicine. Co-lead author Yekaterina Galat, BS, Research Associate and co-lead author Mariana Perepitchka, BA, Research Associate at the Manne Research Institute at Lurie Children’s co-authored this study. 

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The scientists used skin samples from two patients with Down syndrome to create induced pluripotent stem cells. Pluripotent stem cells can self-renew by dividing and developing into the three primary germ cell layers of the early embryo. When these pluripotent stem cells were differentiated into the endothelial cell and mesodermal cells, the scientists discovered the down-regulated genes that appear to be involved in abnormal muscle development and heart problems. 

The scientists found that the decreased expression of these genes interferes with the processes needed for solid tumor formation and growth. They caused impeded cell movement, slower proliferation, and reduced inflammatory response — an environment not conducive for solid tumors growth. A genome-wide analysis was conducted using publicly available data from 11,000 patients to confirm these findings. Still, an animal model is required to validate the study. 

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According to the authors of the study, this discovery carries a strong potential in developing gene-targeted therapies to inhibit solid tumor growth in the general population and also therapies to alleviate the clinical abnormalities in people with Down syndrome. In a way, Down syndrome provides us with a non-traditional lens to study cancer development.

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Source: MedicalXpress

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