Scientists find key genetic factors in Alzheimer’s disease

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A pivotal study from Indiana University School of Medicine has added a new layer to our understanding of Alzheimer’s disease, revealing a critical mutation in a gene related to the brain’s immune cells that could influence susceptibility to the disease.

The study was carried out by a multi-disciplinary team from Stark Neurosciences Research Institute.

Led by Gary Landreth, Ph.D., and Andy Tsai, Ph.D., the research primarily focused on the phospholipase C gamma 2 (PLCG2) gene. This gene plays a crucial role in microglia, the brain’s immune cells.

Discovery of Key Genetic Variants

Through sophisticated genetic analysis, the team identified two key variants in the PLCG2 gene.

One variant, known as M28L, appeared to increase susceptibility to Alzheimer’s. Conversely, another variant named P522R appeared to reduce the risk of the disease.

The research team used innovative mouse models from the MODEL-AD Center to validate their findings.

These models demonstrated that immune cells with the risk-reducing P522R variant showed a decrease in amyloid plaque formation. Meanwhile, cells with the M28L risk-elevating variant showed an increase in plaque accumulation.

Role of Microglia

Microglia have often been considered the first line of defense in the brain. Gary Landreth emphasized their role by stating, “The microglial response affects neurons which then affects the capacity to learn and form new memories.”

Importance and Implications

The study has far-reaching implications for our understanding of Alzheimer’s and its genetic underpinnings.

Specifically, it highlights the importance of microglial immune responses in the progression and potentially even the prevention of the disease.

“We used human genetics to investigate and identify a mechanism, and indeed we have,” said Landreth. This groundbreaking research paves the way for targeted therapies, currently being pursued by the TREAT-AD Center.


This landmark study could prove to be a cornerstone in Alzheimer’s research.

It not only confirms the importance of microglia in the brain’s health but also introduces two key genetic variants that could influence Alzheimer’s susceptibility.

Further research is eagerly awaited to fully comprehend the clinical implications of these findings and to develop targeted therapeutics.

If you care about Alzheimer’s, please read studies about Vitamin D deficiency linked to Alzheimer’s, vascular dementia, and Oral cannabis extract may help reduce Alzheimer’s symptoms.

For more information about brain health, please see recent studies about Vitamin B9 deficiency linked to higher dementia risk, and results showing flavonoid-rich foods could improve survival in Parkinson’s disease.

The research findings can be found in Immunity.

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