Scientists at the Garvan Institute of Medical Research have uncovered a connection between certain genetic variations and the development of both leukemia and autoimmune diseases.
Their findings shed light on how these genetic changes can cause immune cells to malfunction, leading to harmful attacks on the body’s own tissues.
The research focuses on killer T cells, a type of immune cell responsible for destroying harmful invaders like viruses and cancer cells.
In some cases, gene variants can alter a protein called STAT3, which plays a critical role in controlling the growth and function of these cells. When STAT3 is mutated, killer T cells can become “rogue,” growing unchecked and attacking healthy cells.
This phenomenon helps explain why leukemia patients often develop autoimmune conditions such as rheumatoid arthritis or aplastic anemia.
While cancer typically occurs when tumor cells evade the immune system, autoimmune diseases result from the immune system mistakenly targeting the body’s own cells. Both issues appear to stem from problems with killer T cells driven by genetic mutations.
In the study, researchers analyzed blood samples from children with rare inherited autoimmune diseases using advanced screening methods. They used CRISPR/Cas9, a gene-editing tool, to mimic these mutations in mouse models and observe their effects.
The altered STAT3 protein was found to disrupt immune checkpoints—mechanisms that normally keep killer T cells from attacking healthy tissue. Even when only 1-2% of a person’s T cells went rogue, the damage was significant enough to cause autoimmune disease.
These findings also reveal links between genetic mutations, immune cell behavior, and stress-related cell signaling pathways.
The researchers identified two specific receptor systems involved in cell communication under stress, providing further clues about how rogue T cells may develop and function.
The implications of this research are significant. By understanding how gene variants lead to autoimmune diseases and cancer, scientists may be able to create better diagnostic tools and treatments.
For instance, clinicians could one day use high-resolution screening to analyze a patient’s blood sample and identify rogue cells before they cause disease.
Additionally, the study points to potential therapeutic applications. Medications like JAK inhibitors, already approved by the Therapeutic Goods Administration (TGA) for some conditions, might be better targeted based on the presence of these genetic mutations.
This research offers hope for improved treatments and preventive strategies for autoimmune diseases and leukemia.
By focusing on the genetic and molecular triggers of rogue immune cells, scientists are working toward a future where these conditions can be detected and addressed more effectively.
The study, led by Dr. Etienne Masle-Farquhar, was published in the journal Immunity and represents an important step in understanding the complex relationship between genetics, the immune system, and disease.
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