This May Be the Cause of Health Problems for Those with Down Syndrome

A new study has found a genetic link between Down syndrome and several other serious health issues.

young girl with down syndrome
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It's well known that those who have Down Syndrome often suffer from health problems such as heart disease, diabetes, and immune disorders. For a long time, though, doctors weren't sure what the connection was between Down syndrome and these other conditions. Researchers have searched for a genetic connection, and now, they seem to have found one. A new study out of Johns Hopkins University, published this week in Nature Communications, suggests that the presence of too much of a specific gene, which disturbs the peripheral nervous system, might be the cause.

The peripheral nervous system is crucial for regulating many different body functions, including heartbeat, blood pressure, and blood sugar levels. The Johns Hopkins team, "looked at tissue samples from both mice and people with Down Syndrome. They found that those with Down Syndrome carry three times the normal amount of a certain gene called RCAN1...Excess amounts of RCAN1 lower the activity of nerve growth factor...which can lead to impaired development of the peripheral nervous system."

The researchers hope their findings will lead to development of therapies that lower health risks for those affected by the disorder. They're also hopeful that their research might lead to other investigations about RCAN1 and nerve growth factor in relation to diseases like Alzheimer's.

More information about the health and medical issues associated with Down Syndrome is available at the websites of the National Down Syndrome Society and Down Syndrome Education International.

Jamie Pacton lives near Portland where she drinks loads of coffee, dreams of sailing, and enjoys each day with her husband and two sons. Find her at and Twitter @jamiepacton.

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