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A Little-Known Inflammatory Disease Is Hiding in Plain Sight


Vexas was discovered long ago if it was a garden-like genetic disease, caused by inherited genetic mutations. For example, a single gene that causes familial Mediterranean fever, which is also an inflammatory disease, was identified in 1997 by DNA screening of carrier families. But Vexas can’t run after family. Like cancer, Vexas is caused by what scientists call a “somatic mutation,” a genetic mutation that develops in someone’s body after they’re born.

Because somatic mutations appear later in life, they affect only part of a person’s cells, which makes them difficult to detect. Conventional genetic analyzes will ignore them entirely: If a particular mutation is present in only some of a person’s DNA, it can be considered a mistake. To find somatic mutations, scientists have to look very, very carefully.

But looking closely at the entire genome is impossible: There will be too much data to sift through. So when David Beck, an assistant professor of medicine at New York University, decided to look for the disease-causing somatic mutations, he knew he needed to focus. Finally, he targeted a cellular process known as ubiquitination, in which proteins, marked with another protein called ubiquitin, are normally destroyed or moved elsewhere in the cell. . It is a fundamental cellular process with wide-ranging consequences, and previous research have shown that common problems can cause inflammation.

However, dissemination is complicated: Beck has identified 841 different genes involved. But that focus was narrow enough. After searching through a database of more than 2,500 people with undiagnosed diseases, both inflammatory and other diseases, he found three men who shared a somatic mutation at the same point in their lives. same gene: UBA1, which started the ubiquitylation process. These men all had blood problems—too few platelets, abnormally large red blood cells—and immune system problems like cartilage and pneumonia.

But since Vexas shared these symptoms with several other disorders, no one would have suspected that all of these men had the same disease without Beck’s genetic investigation—there is a Many people have inflammatory diseases of unknown cause for researchers to identify such subtle symptom patterns . They are just three men among many who are worried about inappropriate diagnoses.

For many years, David Adams was also one of those people. A welcoming man in his 70s, he spent nearly a decade in and out of the hospital with pneumonia, an infection so severe and painful that “it feels like your body is trying to push you out.” out through the pores. He might never have found out what was going on with him if it weren’t for his tenacious primary care physician, Risa Huber, who sent him to rheumatologists, hematologists. school and eventually the NIH, where he was diagnosed with Vexas.

In terms of treatment, that diagnosis hasn’t made much sense for Adams so far. So far, the only cure for Vexas has been a bone marrow transplant, a procedure that carries significant risks. Adams was supposed to have a transplant last year, but doctors discovered that his right coronary artery was almost completely blocked. He has had a stent placed and he hopes to have an implant soon, but currently he is still dependent on steroids which he has had to take since his illness.

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