In a study from the Garvan Institute of Medical Research, scientists found gene variants associated with leukemia can produce “rogue” immune cells that drive autoimmune diseases.
Scientists had previously noticed that leukemia patients were also likely to develop an autoimmune disease, such as rheumatoid arthritis or aplastic anemia.
Research into this link revealed that immune cells called killer T cells—responsible for destroying harmful cells and pathogens—were a key player.
This new research provides insight into the role these killer T cells play in leukemia and autoimmune disease.
Gene variations affecting a protein that controls the growth of killer T cells can turn them rogue, the researchers found.
Cancers can grow when tumor cells are not identified or destroyed by the immune system.
Autoimmune diseases occur when the immune system attacks the body’s own cells, mistaking them for harmful or foreign cells.
In the study, the researchers used new high-resolution screening methods to look at blood from children with rare inherited autoimmune diseases.
They then used a technique called CRISPR/Cas9, a genome editing tool, in mouse models, to find out what happens when the protein STAT3 is genetically altered.
STAT3 is found throughout the body and is critical for various cell functions, including controlling the immune system’s B cells and T cells.
The team found that if these proteins are altered, they can cause rogue killer T cells to grow unchecked, resulting in enlarged cells that bypass immune checkpoints to attack the body’s own cells.
In addition, even just 1-2% of a person’s T cells going rogue could cause autoimmune disease.
The team says future applications could include better targeting of medication, like already TGA-approved JAK inhibitors, based on the presence of these mutations.
The study also found two specific receptor systems—ways for cells to talk to one another—that are linked to stress.
The team’s research may help develop screening technologies that clinicians could use to sequence the complete genome of every cell in a blood sample, to identify which cells might turn rogue and cause disease.
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The study was conducted by Dr. Etienne Masle-Farquhar et al and published in the journal Immunity.
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