May 30, 2019
Lupus is an autoimmune disease that affects roughly half a billion people around the globe, which has no known cure. It is difficult to diagnose this condition, as the symptoms can mimic those of many other illnesses.
Researchers from the Australian National University believe they may now know which genetic mutations are responsible for this disease. The team believes this discovery will lead to faster and more reliable diagnosis of the disease in patients, by sequencing their genomes and using this genetic information to augment other existing tests.
The researchers discovered two rare genetic mutations, which are found in most people diagnosed with lupus, but less than one percent of the general population. These two genes, BLK and BANK1, regulate an immune molecule. When these genes are mutated the immune molecules are not suppressed, and instead proliferate, which in turn leads to changes in the development of white blood cells.
This new knowledge could also lead to improved treatment plans for lupus, using a targeted approach that directly targets the gene mutations responsible for lupus.
Source: Science Alert
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