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2015 Grants - Schupf
Proteomic Profile for Incident Alzheimer’s Disease in Down Syndrome
Nicole Schupf, Ph.D., M.P.H.
Columbia University Medical Center
New York, New York
2015 Understanding the Development and Devising Treatments for Alzheimer’s Disease in Individuals with Down Syndrome Grant
Can a blood-based proteomic profile help determine the risk for developing Alzheimer’s disease in people with Down syndrome?
People with Down syndrome have a high risk for developing Alzheimer’s. By age 40, the majority of people with Down syndrome have a build-up of amyloid plaques and tau tangles in their brains, the two main hallmarks of Alzheimer’s disease. Detecting and diagnosing the early clinical symptoms of Alzheimer’s disease in people with Down syndrome is challenging due to variable levels of intellectual disability. A non-invasive blood test for Alzheimer’s could help in the early diagnosis of dementia and allow for future preventative treatments to be administered to those at risk for developing the disease.
Nicole Schupf, Ph.D., M.P.H., and colleagues recently examined the “proteomic profile” – or information about all of the proteins in the blood in a small group of people with Down syndrome. The results showed that this proteomic profile was able to accurately detect and differentiate the participants with Alzheimer’s from those without the disease. The researchers hypothesize that the proteomic profile could be used as a “biomarker” signature to help identify who may be at risk for developing Alzheimer’s. Biomarkers are factors that can be used to accurately and reliably indicate the risk or presence of a disease.
For their current work, Dr. Schupf’s team will study a large group of people with Down syndrome followed over several years to identify a proteomic profile that may predict who is at risk for progressing from normal aging to the onset of dementia. In this study, 390 people with Down syndrome who did not have Alzheimer’s disease at the start of the study (baseline) were monitored for nearly six years. During that time, researchers collected blood samples and information on the participants’ genetics and cognitive function. At the end of the study, 118 people developed Alzheimer’s disease. The researchers will use this existing collection of blood samples with matching data to identify biomarkers associated with the onset and progression of Alzheimer’s disease. They will also look for changes that help reveal why some people with Down syndrome develop Alzheimer’s and others do not.
The results of these studies may provide novel information about potential biomarkers that could predict the risk for Alzheimer’s disease in people with Down syndrome. If successful, it is likely these biomarkers could also be used to assess Alzheimer’s risk in people without Down syndrome. Most importantly, this work could lead to new ways to non-invasively detect and diagnose Alzheimer’s as early as possible – when potential treatments may have the maximum benefit.
Co-funded by the Alzheimer’s Association, Global Down Syndrome Foundation and Linda Crnic Institute for Down Syndrome