New study redefines Down syndrome as immune system disorder

Discovery by researchers at the Crnic Institute opens the door to treatments and potential discoveries across major diseases

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DENVER – A groundbreaking new study conducted by the Crnic Institute for Down Syndrome shows definitively that Down syndrome can be categorized as an immune system disorder, based on analyses of thousands of proteins found in blood samples.

The study by the Crnic Institute for Down Syndrome at the University of Colorado School of Medicine on the Anschutz Medical Campus was recently published in Nature’s sister journal, Scientific Reports, and was underwritten by the Global Down Syndrome Foundation.

Led by renowned scientists Dr. Tom Blumenthal, director emeritus, and Dr. Joaquín Espinosa, executive director of the Crnic Institute, the research team looked at 4,000 proteins in the blood samples from hundreds of individuals with and without Down syndrome, the largest project of its kind.

The study builds upon earlier research published by the Crnic Institute showing that the interferon response is consistently activated in cells obtained from individuals with Down syndrome. This contrasts with the interferon response being activated only when fighting infection or a virus in the general population.

The findings provide an important clue as to why nearly 100 percent of people with Down syndrome get Alzheimer’s disease, why they are susceptible to autoimmune disorders like type 1 diabetes, and why they are protected from solid tumors such as breast and prostate cancer.

“If you compare two large random groups of typical individuals, the proteins in their blood will not greatly differ,” said Espinosa. “Even a comparison of males versus females reveals very few differences. However, we were blown away when we discovered there were hundreds of proteins that are significantly elevated or decreased in the blood of people with Down syndrome versus typical individuals. This offers the scientific community an opportunity to think about ways to restore those proteins to normal levels and to provide effective treatments.”

“When we initiated this study five years ago, partnering with the proteomics company SomaLogic, we had no idea what we would find,” said Blumenthal. “But this kind of exploratory science can yield unexpected and exciting results, as this one did. Indeed, among the hundreds of proteins we found altered in Down syndrome, we actually have the opportunity to identify which ones we should study further.”

Interferons are molecules produced by cells in response to viral or bacterial infection. In a typical person, interferons are activated only when they are fighting an infection. In individuals with Down syndrome, the interferon response appears to be activated constantly, which can predispose them to autoimmune disorders and leukemia, and perhaps even Alzheimer’s disease. In contrast, the same interferon response may be responsible for protecting them from other conditions such as solid tumors.

“Research has a direct impact on health outcomes for people with Down syndrome,” said Michelle Sie Whitten, president and CEO of Global Down Syndrome Foundation. “Each of these studies helps identify potential interventions or treatments for our children and adults, and they also have the potential to advance our understanding of many other chronic diseases that are more or less common in people with Down syndrome.”

Just last week, Whitten, Espinosa, and Global Down Syndrome Foundation advocate Frank Stephens were called as expert witnesses, and to testify before Congress about the lack of Down syndrome research funding by the National Institutes of Health at the first-ever congressional hearing on Down syndrome research last week, Down Syndrome: Update on the State of the Science and Potential for Discoveries Across Other Major Diseases.

About the Global Down Syndrome Foundation

The Global Down Syndrome Foundation is at the forefront of research, medical care, education and advocacy dedicated to significantly improving the lives of people with Down syndrome. Supporting the research of hundreds of scientists around the world, and through our advocates, partners, and affiliates including the Crnic Institute for Down Syndrome and the Anna and John J. Sie Center for Down Syndrome, Global is making an impact on the lives of people with Down syndrome today, and remain focused on finding solutions tomorrow. We are committed to helping people with Down syndrome realize their fullest potential and lead healthy and productive lives. To learn more, visit.

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