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Hundreds of men are probably living with a fatal disease that has just been discovered by scientists at the National Institutes of Health (NIH).
The new disease, called VEXAS, causes frequent blood clots, fever, inflammation, and lung damage, especially in men.
And researchers at the National Institutes of Health have started to see men with a strange web of symptoms attending their clinics.
Three of those men shared the genetic mutation, and scientists later found dozens more had the mutation and the same set of life-threatening symptoms.
Now they suspect that hundreds or more of men in the United States may have VEXAS – and if the men the NIH studied so far were an example of the case, 40% of them could die from a disease. previously unknown.
Inflammation, in small doses, is a critical part of the immune system’s ability to fight infection. But when it becomes chronic, for a number of reasons, it can be fatal.
About 125 million people in the United States suffer from some form of chronic inflammatory disease. Often times they occur due to obesity or are exacerbated by it, there are a large number of these diseases and distinguishing one from the other is a challenge as it can have several overlapping causes and symptoms. .
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With their doctors’ potential explanations for chronic inflammatory symptoms exhausted, some patients end up at the National Institutes of Health Research Hospital in Bethesda, Maryland.
Dr David Beck, NHGRI clinical member and lead author of the research paper on VEXAS, said: “We had many patients with undiagnosed inflammatory diseases who came to NIH Medical Center, and we weren’t able to diagnose them. On a combination of symptoms and lab results. But it didn’t work, so the NIH team decided to try a different approach. “
They sequenced the entire genomes of 2,560 patients with undiagnosed inflammatory diseases.
More than 1,000 of them shared symptoms of fevers and recurrent infections throughout their bodies, and it wasn’t just affecting specific parts or systems. They found an anomaly, shared by three men in the group.
Each had two copies – instead of one – of a gene called UBA1, which is found on the X chromosome.
And since men have only one X chromosome and one Y chromosome (unlike women, who have two X chromosomes), genetic abnormalities in this chromosome can have a particularly profound effect on men’s health.
But two copies of the gene on the X chromosome are almost impossible in men, because they only need to have one of each gene on that chromosome and only one X chromosome.
Usually, all cells contain the exact same set of DNA. But people with mosaicism have more than one set of genes. Some groups of cells contain a set of genes with a mutation, while other groups of cells contain a set of DNA that does not contain that mutation.
And UAB1 mutations were present in myeloid cells, which are largely responsible for strengthening the innate immune system’s primary defense against infection – including inflammation.
After examining the genes of other patients stored in the NIH databases, the study authors found 22 other men who carried the mutation, most of whom had similar symptoms: fever, clots, lung abnormalities and cavities. , called vacuoles, in myeloid cells.
Researchers named the disease VEXAS after its symptoms and genetic origin: a much simpler acronym for vacuoles, enzyme E1, autoinflammatory syndrome, and somatic syndrome.
Given the prevalence of the VEXAS mutation in their databases, NIH researchers believe hundreds of other men may have the disease – and their lives may be in danger.
The next steps for the team will be to try to find out what they have learned about the state of treatment development.
Source: Daily Mail
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