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A sleeping young woman with Down syndrome is being tucked into bed.

NIH Funds Study of How Sleep May Be linked to Alzheimer’s Disease in Individuals with Down Syndrome

Researchers at the University of Colorado Boulder will use the $3.3 million in funding to build on earlier research that suggests genetic mechanisms of Down syndrome decrease sleep quality and speed up the onset of Alzheimer’s disease.

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Written by Chelsea Donohoe on November 6, 2023
What You Need To Know

The National Institutes of Health (NIH) awarded a research team at the University of Colorado Boulder a $3.3 million grant to investigate the link between genetic factors that cause sleep issues in individuals with Down syndrome and their increased likelihood to develop early-onset Alzheimer’s.

While it is well known that individuals with Down syndrome have a high risk of developing Alzheimer’s, this population also experiences increased rates of disrupted sleep. A team of scientists at the University of Colorado Boulder believe there may be a genetic link between these conditions.  

Down syndrome and Alzheimer’s disease 

Down syndrome, also known as trisomy 21 (T21), occurs when a person is born with a third copy of chromosome 21, which carries a gene that produces a specific protein called amyloid precursor protein (APP). Overexpression of the APP protein can cause beta-amyloid plaques to develop in the brain, and these plaques are a sign of the development of Alzheimer’s disease. 

Genetic factors of sleep 

Individuals with Down syndrome are also predisposed to sleep disturbances that may be related to an overexpression of the Regulator of calcineurin1 (RCAN1) gene, also found on chromosome 21, and chronic sleep disturbances could be one factor that contributes to the onset of Alzheimer’s. However, the extent that these genetic features of T21 contribute to both poor sleep and early-age onset Alzheimer’s disease is not understood. 

Leader of the study, Charles Hoeffer, PhD, associate professor of integrative physiology at CU Boulder and member of the Linda Crnic Institute for Down Syndrome, was inspired by his past research to use unique models of Down syndrome in this project. 

“I have had a long-standing interest in the molecular underpinnings of cognition and memory formation. Sleep influences memory formation and mental health, but how this happens is poorly understood. Therefore, I think it is interesting to apply the tools available to us studying Down syndrome related sleep difficulties to gain information about this larger neurobiological question,” explains Hoeffer. 

 An innovative approach 

This study will be the first to examine the potential role of APP and RCAN1 in DS-AD related sleep abnormalities. The results could fill a critical knowledge gap in how gene expression influences sleep disturbances and the progression of Alzheimer’s disease in adults with Down syndrome.  

According to Hoeffer, “Sleep quality can enormously affect health, cognition and overall quality of life for people with Down syndrome. If we can discover ways to improve sleep for these individuals, we can improve many aspects of their health and well-being at the same time.” 

Dr. Hoeffer’s project team members at CU Boulder include Mark Opp, PhD, professor of integrative physiology and Chris Link, PhD, associate professor of integrative physiology. 

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Charles Hoeffer, PhD