Research provides insight into brain function of those with Down syndrome and Alzheimer’s

Research provides insight into brain function of those with Down syndrome and Alzheimer’s

In a new study, scientists have observed “molecular changes within the aging brains of individuals with Down syndrome” that provide insight regarding Down syndrome and cognitive challenges – including Alzheimer’s disease. Not only could these changes help explain the occurrence of Alzheimer’s disease in those with Down syndrome, but they could also help us better understand Down syndrome in general.

Senior author Jerold Chun, M.D., Ph.D., professor and senior vice president of Neuroscience Drug Discovery at Sanford Burnham Prebys. explained:

“A stunningly high level of molecular and cellular diversity was found affecting single brain cells, which provides new avenues for understanding both Down syndrome and Alzheimer’s disease.”

Published in the Proceedings of the National Academy of Science, the findings could lead to new beneficial therapies for those with Down syndrome who have Alzheimer’s.

Alzheimer’s disease is one of the most frequent comorbidities experienced by individuals with Down syndrome, and those in the medical field are striving to better understand why those with Down syndrome are especially susceptible: 

“By the time they’re in their 40s, every single person with Down syndrome will experience some Alzheimer’s pathology. We asked what happens in the brain before Alzheimer’s disease takes hold.”

The research was conducted using a method called single-nucleus transcriptomics, “which looks at the RNA molecules within single cells”. Though this technique had been used in research before, it had not yet been used while conducting research on Down syndrome.

“Our study revealed unappreciated changes in brain cell types involving hundreds of thousands of never-before-seen RNAs that can’t be seen using standard techniques. These can now be considered toward understanding the brain.”

One of the key findings was that those with Down syndrome have more inhibitory than exhibitory neurons (“more neurons that block the brain’s electrical signals than … trigger them”). Another important discovery was increased instances of a type of brain cell called microglia, which is becoming increasingly important in treating Alzheimer’s disease.

Though the findings just scratch the surface of the neurobiology of individuals with Down syndrome, they are a valuable contribution to understanding the genetic disorder and how Alzheimer’s disease affects those with it:

“It’s wonderful that people with Down syndrome are living longer now than at any point in history, and we hope our research ultimately contributes to their improved quality of life at all ages. We are grateful to the brain donors, as well as their families, for helping our team and other researchers continue to shape our understanding of both Down syndrome and Alzheimer’s disease.”


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