Genetic risk of blood cancer may also trigger autoimmune diseases

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A recent study by researchers at the Garvan Institute of Medical Research has uncovered a connection between gene variants linked to leukemia and the development of “rogue” immune cells that can drive autoimmune diseases.

This discovery sheds light on why some leukemia patients are more likely to develop autoimmune conditions, such as rheumatoid arthritis or aplastic anemia.

Scientists have long observed that leukemia often overlaps with autoimmune diseases, where the immune system mistakenly attacks the body’s own cells.

In this study, researchers focused on a type of immune cell called the killer T cell, known for targeting and destroying harmful cells. However, under certain genetic conditions, these cells can turn against the body.

The researchers identified gene variations affecting a protein called STAT3, which controls the growth and behavior of killer T cells.

When altered, STAT3 can cause these immune cells to go rogue, growing larger and bypassing the normal checkpoints that usually keep them from attacking the body’s healthy cells. Even a small percentage (1-2%) of killer T cells turning rogue can be enough to trigger an autoimmune response.

Using advanced screening methods, the team analyzed blood samples from children with rare inherited autoimmune diseases and experimented with genetically altering STAT3 in mouse models through CRISPR/Cas9 gene editing.

They found that changes to STAT3 could lead to unchecked growth of rogue T cells, resulting in immune cells that attack healthy tissues rather than only harmful cells.

In addition to STAT3, the study also identified two receptor systems involved in cellular communication that play a role in responding to stress.

These systems may also contribute to the behavior of rogue immune cells, suggesting more complex interactions that could drive autoimmune responses.

These findings have potential applications for improving treatments. For example, targeted therapies, such as JAK inhibitors already approved by the Therapeutic Goods Administration (TGA), might be more effective if tailored to individuals with specific mutations.

The research team envisions future screening methods that could sequence every cell in a blood sample to detect rogue cells early, helping to identify and potentially prevent autoimmune diseases before symptoms arise.

This groundbreaking study, led by Dr. Etienne Masle-Farquhar and published in Immunity, provides a new perspective on how genetic variations can shape immune cell behavior and lead to both cancer and autoimmune conditions.

f you care about health, please read studies that vitamin D can help reduce inflammation, and vitamin K could lower your heart disease risk by a third.

For more health information, please see recent studies about new way to halt excessive inflammation, and results showing foods that could cause inflammation.

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