Gene Variations Linked to Increased Inflammation and Disease Risk

Gene Variations Linked to Increased Inflammation and Disease Risk

Researchers from the Walter and Eliza Hall Institute of Medical Research (WEHI) have made a significant discovery regarding the role of a specific gene, known as MLKL, in triggering necroptotic cell death. Necroptosis is a natural process that protects our bodies from infection, but in some individuals, variations in the MLKL gene can lead to tissue damage and increased risk of inflammatory diseases.

Dr. Sarah Garnish, a researcher at WEHI, explained that necroptosis acts as an alarm system, signaling other cells to respond when cells explode. This process is beneficial during viral infections as it kills infected cells and prompts the immune system to initiate a targeted immune response. However, when necroptosis becomes uncontrolled or excessive, it can actually trigger disease.

The MLKL gene usually applies brakes to prevent unnecessary cell damage during necroptosis. However, in approximately three percent of the global population, this regulation does not occur. These individuals have a form of MLKL that is less responsive to stop signals, leading to increased inflammation and disease risk.

Although the MLKL gene variant has not been directly linked to any specific disease yet, researchers believe that it has the potential to combine with other gene variants and environmental factors to influence the intensity of inflammatory responses. This discovery could pave the way for personalized treatments for inflammation and other diseases, as understanding the genetic factors involved can help tailor treatments to individual needs.

Dr. Joanne Hildebrand, the project leader, emphasized that multiple genes, environmental factors, and lifestyle choices contribute to the development of conditions like Type 2 diabetes. The MLKL gene variant is one piece of the puzzle, and further research is needed to fully understand its impact on disease risk.

In conclusion, variations in the MLKL gene can make certain individuals more prone to inflammation and increase their risk of developing inflammatory diseases. This research has the potential to advance personalized medicine, allowing for targeted treatments based on individual genetic profiles.

Source: Walter and Eliza Hall Institute of Medical Research (WEHI)

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