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Down syndrome: Study finds cause of organ dysfunction

Biologists have uncovered how the Down syndrome disorder hampers a separate part of the nervous system that plays a key role in health and longevity.

A new report by Johns Hopkins University biologists in their research focused on the nervous system while most Down syndrome research has focused on the brain.

The paper, to be published Dec. 14 in the journal Nature Communications, traces complex biochemical signals leading to peripheral nervous system dysfunction found in people with Down syndrome.

Down syndrome is a genetic condition characterized by impaired physical and cognitive development. The peripheral nervous system has no known role in intellectual ability, but it does regulate organ function including heartbeat, blood pressure and blood glucose. Peripheral nervous system impairment could contribute to heart disease, diabetes and immune disorders that are associated with Down syndrome.

One of the most common genetic disorders, Down syndrome is caused by the appearance of a third copy of chromosome 21. It appears in one of nearly every 700 babies born in the United States; roughly 400,000 Americans are estimated to have the disorder, said a news release.

Scientists studying the condition have mostly concentrated on the central nervous system, but Rejji Kuruvilla, an associate professor in the Johns Hopkins University Department of Biology, said that leaves out a lot.

“There’s been a whole aspect of the nervous system that has been ignored in Down syndrome, and perhaps in other neurological disorders” said Kuruvilla, the co-author of the Nature Communications paper who runs the lab where the research was conducted.

 

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