A groundbreaking study has shed new light on the genetic underpinnings of Alzheimer's disease.
A groundbreaking study led by experts from Indiana University School of Medicine has shed new light on the genetic underpinnings of Alzheimer's disease. The team's research, rooted in human genetics studies, has unearthed a critical mutation within a key gene operating in the brain's immune cells, potentially elevating the risk of Alzheimer's disease.
The focal point of the investigation revolved around the phospholipase C gamma 2 gene, intricately entwined within microglia -- central to the brain's immune response. This genetic anomaly, discovered through analysis of the gene's biological workings, showcased the impact of specific rare variants. The study found that the M28L variant heightened the susceptibility to Alzheimer's disease, whereas the P522R variant exhibited a risk-reducing effect.
Microglia, often regarded as the brain's first line of defense against infections, toxins and damage, has garnered attention for its significant role in influencing disease susceptibility. Extensive collaboration within Stark Neurosciences Research Institute enabled a comprehensive evaluation of the gene's implications. This included a comparison between preclinical data from animal models and real-world human data on Alzheimer's disease.
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