Autoimmune Diseases in Down Syndrome Patients Explained by Scientists at Mount Sinai Millions of Americans suffer from autoimmune diseases every year. Things like celiac disease, type 1 diabetes, and multiple sclerosis can cause serious harm to individuals and lots of confusion for their doctors. Until now, scientists were unable to explain why certain individuals with Down syndrome were at an increased risk of experiencing these types of conditions. But, researchers from the Icahn School of Medicine at Mount Sinai in New York have recently identified which parts of the immune system are responsible for this abnormality. The study, which was published in the February 22 online issue of Nature, reveals which mechanisms of the immune system go wrong and contribute to the autoimmune issue in Down syndrome patients. Information like this could be invaluable moving forward; not only to the Down syndrome community, but to all individuals suffering from autoimmune diseases. Down Syndrome & Autoimmune Issue Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21 in an individual’s cells. It is estimated that roughly 1 in 700 babies in the United States is born with Down syndrome every year. However, with advancements in medical science, individuals with Down Syndrome are now living longer and healthier lives. For some Down syndrome patients, though, their longer lifespan can bring about certain complications. Many are at an increased risk for autoimmune diseases, which can be incredibly debilitating. In these conditions, the body’s immune system attacks itself instead of foreign invaders or pathogens. The Identification of Culprits In their study, the team of researchers at Mount Sinai identified some key players in the development of autoimmune diseases in Down syndrome individuals. The scientists were able to determine that two specific functional markers- T-bet and Eomes- have an abnormally low level in individuals with Down syndrome when compared to their healthy counterparts. They found that when these markers are decreased, immune cells become more reactive and prone to attacking friendly cells instead of pathogens. Furthermore, they discovered that an imbalance of inflammation-associated cytokines- IL-21 and TGF-beta- in individuals with Down syndrome might further contribute to the autoimmune issue. The scientists also noted that there is some evidence of an altered activation of specific regulatory T cells in Down syndrome patients. It is proposed that these T cells are responsible for determining which cells the immune system will attack and which it will leave alone. The Big Picture The findings of this study could have far reaching implications for Down syndrome patients and those suffering from autoimmune conditions. Historically, it has been incredibly difficult to determine which mechanisms of the immune system are responsible for autoimmune diseases. Now, with this information, scientists can start to develop treatments that target only the relevant cells and pathways. Such treatments could be incredibly powerful. Not only will they potentially relieve the suffering of those affected by autoimmune diseases, but they could also help scientists further understand why these conditions arise in the first place. Overall, the discoveries made by the scientists at Mount Sinai will have a positive effect in the Down syndrome and autoimmune disease communities. It is now up to the medical community to develop treatments that are consistent with these findings and make a real difference to the lives of those who suffer from them.
https://www.lifetechnology.com/blogs/life-technology-medical-news/mechanisms-underlying-autoimmunity-in-down-syndrome-revealed
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