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New findings in Down syndrome and Alzheimer’s disease research

By October 30, 2020November 3rd, 2020Commentary

Contributed by Alessandra C. Martini, PhD, Associate Project Scientist at UCI MIND

Researchers have discovered that the majority of people with Down syndrome will have the pathology of Alzheimer’s disease – amyloid plaques and neurofibrillary tangles – in their brains by 40 years of age.

In this new study, conducted with colleagues at the University of Kentucky, we used autopsy tissue donated by research participants to analyze the role of microglia (the brain’s immune cells) in the development of Alzheimer’s disease in people with Down syndrome across different ages and disease stages.

What we found is that people with Down syndrome, and especially those with Alzheimer’s disease pathology, have a particular kind of microglia cell that is more damaged compared to people without Down syndrome. This suggests that individuals with Down syndrome have a different immune response in their brains that may impact how they respond to Alzheimer disease pathology. This will be an important consideration for future studies and drug development for people with Down syndrome and Alzheimer’s disease.

For more details on our findings, please visit this link >


Alessandra Martini, PhD

Currently, Dr. Martini is an Associate Project Scientist in the lab of Dr. Elizabeth Head at UCI, and their main goal is to study the development of Alzheimer’s disease in people with Down syndrome. Dr. Martini completed a postdoctoral training with Dr. Frank M LaFerla at UC Irvine, where she investigated the impact of amyloid-beta on inflammatory pathways involved in Alzheimer’s disease, with an emphasis on the relevance of protein clearance and trafficking.