KU Alzheimer’s Disease Research Center leading the nation in work with Down syndrome and dementia

Down syndrome is the most common genetic cause of Alzheimer's disease.

Everyone with full trisomy 21 develops brain changes associated with Alzheimer’s, with the accumulation of plaques made of a protein known as beta-amyloid typically reaching levels associated with Alzheimer’s by around age 40, according to Lauren Ptomey, Ph.D., director of the Brain Health in Down Syndrome program at the University of Kansas Alzheimer’s Disease Research Center (KU ADRC). 

“We know that everyone with Down syndrome will get the pathology for Alzheimer’s,” said Ptomey. “So, it’s an important population to include in studies.”

The majority of people with Down syndrome, 80% - 90%, will go on to develop clinical symptoms of dementia around age 50, though not all individuals do.

But historically, Alzheimer’s research has largely overlooked this population.

Currently, of the 36 Alzheimer’s Disease Research Centers (ADRCs) in the country, which are designated and supported by the National Institute on Aging, only two of them have dedicated Down syndrome research programs such as the one led by Ptomey. KU Alzheimer’s Disease Research Center and the other center, located at the University of California - Irvine, recently published a paper in Alzheimer’s & Dementia, the journal of the Alzheimer’s Association, making a case for all ADRCs to include people with Down syndrome in their work.

“We looked at the development of the programs to see what critical advances we’ve made in order to move the science forward,” Ptomey said. “So, we provided a kind of road map for other ADRCs to see how they can leverage what’s come out of our programs.”

People with Down syndrome are born with extra genetic material from chromosome 21. According to the Alzheimer’s Association, the increased risk of dementia in people with Down syndrome is a result of these extra genes. Having the extra genes is thought to lead to an increased production of the beta-amyloid protein, which form the plaques in the brain that are a hallmark of the disease.

Thanks to improved quality of life in the last few decades, people with Down syndrome are living longer, which enabled the link to dementia to be discovered. People with Down syndrome over the age of 40 are the fastest-growing age group in this population. This underscores the need for more research on Alzheimer’s in this population and “also has the potential to enhance our understanding of Alzheimer’s disease in the neurotypical population,” the paper notes.

The National Down Syndrome Society reports that Alzheimer’s symptoms in people with Down syndrome typically begin around age 50, as opposed to age 65 in the general population. The society strongly advocates for these individuals to be included in clinical trials and insured for new drugs and treatments.

Every ADRC has a research theme, and at KU ADRC the research focuses on energy metabolism and its effect on aging and Alzheimer’s disease — and that includes within the context of Down syndrome. The program Ptomey directs at KU ADRC, the Brain Health in Down Syndrome program, researches this population. “What sets us apart is our focus on how lifestyle and metabolic changes affect Down syndrome outcomes,” Ptomey said. For example, Ptomey’s group has conducted trials involving adults with Down syndrome to determine the effect of exercise on cognition in that group.

Since the Brain Health in Down Syndrome program began at KU ADRC, the team has enrolled a diverse cohort that complements and informs major National Institutes of Health (NIH)-funded initiatives, including the Alzheimer's Biomarkers Consortium-Down Syndrome (ABC-DS), the Alzheimer’s Clinical Trials Consortium (ACTC-DS), the Down Syndrome Cohort Development Program (DS-CDP), several national anti-amyloid clinical trials and two NIH-funded lifestyle trials. 

The paper also highlights KU ADRC’s pioneering Brain Health Report, where the team shares the results with the research participants, something not done in any other Down syndrome research. “We are able to show them and their families what their risks are for Alzheimer’s,” Ptomey said. “We share their genetic and biomarker data with them, cognitive test results as well as modifiable factors to work on to help them delay onset of the disease.”

She emphasized the data is not diagnostic, but simply research findings that are made available to participants.

The dedicated Down syndrome research team at KU ADRC continues to recruit people for ongoing studies. The goal is to learn what drugs and other interventions, such as diet and exercise, can stave off the onset of disease. “Our goal is to prevent the symptoms of dementia or at least delay them,” Ptomey said.