Researchers at the University of California, San Diego worked with a surprising cohort when testing an experimental Alzheimer’s drug – they sought out people with Down syndrome.
National Public Radio put together a nice piece on the study, and why those with Down syndrome are an ideal subset to understand Alzheimer’s:
“By the age of 40, 100 percent of all individuals with Down syndrome have the pathology of Alzheimer’s in their brain,” Michael Rafii, director of the Memory Disorders Clinic at UC San Diego, told NPR. Indeed, they represent the world’s largest population of individuals predisposed to Alzheimer’s, he said.
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Scientists wager the increased risk of dementia is associated with extra genes found on chromosome 21 in Down syndrome, according to the Alzheimer’s Association. By age 40, autopsy studies show that the brains of almost all those with Down syndrome have “significant levels of plaques and tangles, abnormal protein deposits considered Alzheimer’s hallmarks,” the association said. “But despite the presence of these brain changes, not everyone with the syndrome develops Alzheimer’s symptoms.”
This is key in understanding the manifestation of the illness, researchers say, as well as the ability to longitudinally track the disease’s progression in such a reliable subset.
