Scientists at the National Institutes of Health have discovered a rare and fatal inflammatory disease in men called VEXAS syndrome.
It is possible that hundreds, if not more, of men in the United States suffer from this recently discovered genetic disease that causes severe symptoms including blood clots in the veins, recurrent fevers, and lung disorders, and in 40% of patients. , the death.
Researchers from the National Institutes of Health identified VEXAS disease, by working the other way around: Instead of grouping people with similar symptoms and looking for biological explanations, they searched the genetic makeup of 2,500 people for differences that could be linked to a wide range of symptoms of non-inflammatory conditions. Diagnosed according to Russia today.
Dr. David P. said. Beck, Clinical Fellow at the National Human Genome Research Institute (NHGRI) and lead author of the research paper in a statement published Tuesday 27 October: “We had many patients with undiagnosed inflammatory conditions coming to the NIH Medical Center, and we couldn’t Their diagnosis. ”
“Instead of starting with symptoms, we started with the list of genes. Then we studied the genomes of undiagnosed individuals and looked where the results would take us,” he added.
Using this method, the scientists finally identified three middle-aged men who all had the same mutations in a gene called UBA1. They later discovered 22 other men had the same mutations and similar symptoms, such as blood clots and a fever.
The research team named the disease VEXAS based on its main characteristics:
– V: short for Vacuoles, vacuoles (abnormal cavity-like structures in certain cells).
E: E1 (associated with UBA1).
– X: the dominant genetic traits associated with the X chromosome
– A: short for autoinflammatory, autoimmune disease (meaning that the immune system attacks the body by mistake)
S: short for somatic, somatic symptom (as the condition appears to appear at some point during the patient’s life, not at birth).
Researchers believe that VEXAS is only found in men because it is linked to the X chromosome, of which men only have one. They assume that the woman’s extra X chromosome could be protective in this condition.
Since the research was published, 25 more patients have been found to have the syndrome, but the study authors expect the true prevalence to be much higher, given that there are nearly 125 million people in the United States suffering from some form of chronic inflammatory disease, according to NBC News.
Detecting the success of the “genome-first” strategy could help identify other genetic conditions that had not previously been detected.
The researchers hope that these discoveries will help health care professionals diagnose and treat patients with inflammatory conditions, and the classification system for these diseases may improve.
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