Down Syndrome Understood as an Immune Disorder

By AASLApril 15, 2018

Yes, you read that correctly: recent research has looked further at Down Syndrome as an immune disorder. This discovery, by the Linda Crnic Institute for Down Syndrome at the University of Colorado medical campus, is groundbreaking because it provides changes in the direction of future Trisomy 21 and Down Syndrome research. It also increases the likelihood that the medical community can develop effective therapies.

So, how exactly did scientists find the connection that DS is consistent with an immune disorder?

The Discovery – Immune System On Hyper Drive

Trisomy 21, or having an extra copy of chromosome 21, is the known cause of Down Syndrome. Recent research identified that the interferon response (an immune system response which is supposed to activate to target only viruses and bacteria when a threat is present) functions on hyper-drive in those with Down Syndrome.

In people with DS, the interferon response is always on and is always attacking things that aren’t there. Researchers discovered this after looking at more than 3,500 proteins in plasma samples of participants. They found that 200-300 of those are statistically different in individuals with DS.

Of those proteins, half are involved in immune control and consistently effected by Trisomy 21. This led to the discovery that a branch of the immune system is hyperactive in individuals with Down Syndrome.

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