By taking a disease risk gene whose role was completely unknown and studying its function down to the level of a single nucleotide, we’ve discovered an entirely new and important mechanism that affects our immune system’s ability to carry out its role as the body’s defence mechanism.
- Arthur Kaser
To date, researchers have identified hundreds of genetic variants that increase or decrease the risk of developing diseases from cancer and diabetes to tuberculosis and mental health disorders. However, for the majority of such genes, scientists do not yet know how the variants contribute to disease – indeed, scientists do not even understand how many of the genes function.
One such gene is C13orf31, found on chromosome 13. Scientists have previously shown that variants of the gene in which a single nucleotide – the A, C, G and T of DNA – differs are associated with risk for the infectious disease leprosy, and for the chronic inflammatory diseases Crohn’s disease and a form of childhood arthritis known as systemic juvenile idiopathic arthritis.
In a study published in the journal Nature Immunology and led by the University of Cambridge, researchers studied how this gene works and have identified a new mechanism that drives energy metabolism in our immune cells. Immune cells help fight infection, but in some cases attack our own bodies, causing inflammatory disease.
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Image: Pacman
Credit: Mário Tomé
Reproduced courtesy of the University of Cambridge
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