Study shows what predisposes individuals to Alzheimer’s disease

New research demonstrates a link between Alzheimer’s disease and genetics, and the findings can open the door for new targeted, therapeutic treatments.

Researchers at Mount Sinai Hospital discovered how microglia plays a role in identifying those who are genetically predisposed to Alzheimer’s disease. Microglia are a type of cell found in the central nervous system responsible for immune response. Previous studies have indicated how microglia concentrates around amyloid plaques in those who have Alzheimer’s disease.

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Mount Sinai researchers studied 150 brains from biopsies or autopsies to link microglia function in the brain to specific gene expressions. They found the gene SPI1 regulates microglia and is linked to those genetically predisposed to Alzheimer’s disease.

Their findings were published in the journal Nature Genetics.

“Our study is the largest human fresh-tissue microglia analysis to date of genetic risk factors that might predispose someone to Alzheimer’s disease,” senior author Panos Roussos, M.D., Ph.D., said in a press release.

“By better understanding the molecular and genetic mechanisms involved in microglia function, we’re in a much better position to unravel the regulatory landscape that controls that function and contributes to AD. That knowledge could, in turn, pave the way for novel therapeutic interventions for a disease that currently has no effective treatments.”

Another study by researchers at the Massachusetts Institute of Technology found that microglia is related to another gene called APOE4. This study showed microglia that express APOE4 cause a buildup of lipids. That disrupts neurons’ ability to communicate with one another and they can cause further brain inflammation. The study found that Triacsin C can interfere with the formation of lipid droplets and restore communication between neurons. Although Triacsin C can be toxic to other cells, this research allows for further investigation on how lipid buildup can be treated.

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“APOE4 is a major genetic risk factor, and many people carry it, so the hope is that by studying APOE4, that will also provide a bigger picture of the fundamental pathophysiology of Alzheimer’s disease and what fundamental cell processes have to go wrong to result in Alzheimer’s disease,” Li-Huei Tsai, senior author of the study and director of MIT’s Picower Institute for Learning and Memory, said in a press release.

The proliferation of microglia is not found only in Alzheimer’s. Microglia causes inflammation in many neurodegenerative diseases, such as Parkinson’s, Huntington’s, amyotrophic lateral sclerosis and multiple sclerosis.

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