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Scientists have made the discovery by examining inflammations that are incurable. PHOTO: Reuters
American scientists have discovered a new genetic disease that kills mainly men. The mutation causes systemic inflammation in the body, blood clots in the blood vessels, and damage to the lungs. About 40% of patients die because there is no cure. An article in the New England Journal of Medicine has been devoted to the hitherto unknown disease.
Researchers have named the new disease VEXAS. It is caused by a mutation in the UBA1 gene, located on the X chromosome. It is responsible for the production of the protein, which regulates the intracellular processes of degradation of other proteins and modifies their functions. Of the two copies of this gene in disease proponents, one was mutated. And because men only have one X chromosome, they are at higher risk.
In the United States alone, 125 million people suffer from chronic inflammatory diseases. Many of them have common symptoms, making accurate diagnosis difficult. That is why VEXAS is rarely found. In search of the causes of undiagnosed inflammation, scientists studied the genomes of 2,500 people, paying special attention to genes that regulate proteins and the immune system. They first used genome sequencing as a method to diagnose the unknown disease.
The insidious thing is that patients feel very bad and do not respond to any treatment, not to high doses of steroids or to various chemotherapy options, says David Beck, lead author of the study.
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