News Journal Science Transl Med
January 24, 2022

BRI Research Team Links Down Syndrome, Aging and Autoimmunity

A research team led by Bernard Khor, MD, PhD, at Benaroya Research Institute (BRI) built models of immune system aging to demonstrate that Down syndrome (DS) is associated with acceleration of the aging process and a higher risk of autoimmunity.

The findings were published in the January 12 issue of the journal Science Translational Medicine in an article entitled Deep immune phenotyping reveals similarities between aging, Down syndrome and autoimmunity.

In the study, Dr. Khor and his team used mass cytometry to examine the immune systems of 28 people with DS and, through the creation of a new analytical software, showed how these immune systems share characteristics with those of much older subjects who do not have DS, as well as with individuals with certain autoimmune diseases. For the first time, a protein called IL-6 was associated with changes that drive aging of the immune system.

The team believes their findings may help explain why people with DS are more likely to develop autoimmune diseases such as type 1 diabetes, celiac disease and rheumatoid arthritis.

"It is important to study immune dysregulation in people with DS, because immune-mediated diseases and autoimmunity are a real threat to their well-being,” said Dr. Khor. “Going forward, we want to better understand the mechanisms driving advanced immune aging, using similar studies to determine whether we should be thinking of DS as a disease of immune aging.”

Down syndrome is the most common chromosomal condition; about one in 800 people in the United States is born with it. A better understanding of how the immune systems ages and which factors affect the process would aid the development of new therapies to treat immune system disorders in people both with and without Down syndrome.

"We believe advancing this work will help us identify therapeutically influential targets that drive immune system aging so we can determine which individuals both with and without DS may benefit from precision therapy," Dr. Khor said.