Scientists at the National Institutes of Health (NIH) have discovered a rare and deadly genetic disease affecting men called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS) syndrome, which is caused by the mutation in the UBA1 gene.
The researchers suspect VEXAS has been found in men because it is linked to the X chromosome in which men only have one. On the other hand, they hypothesize women’s additional X chromosome could be the protective factor in this case.
VEXAS causes symptoms that included blood clots in veins, inflammation of the cartilage, abnormalities in the lung system, recurring fevers and pulmonary abnormalities and vacuoles (unusual cavity-like structures) in myeloid cells, the scientists reported in their findings in the New England Journal of Medicine.
Researchers at the National Institute of Health discovered the new disease by flipping the methodology. Instead of grouping people with similar symptoms and analysing their genomes for biological explanations, they searched the genetic makeup of about 2,500 patients in the NIH database for variations that could be linked to their undiagnosed illnesses.
According to Dr David Beck, a clinical fellow at the National Human Genome Research Institute and lead author of the new report, they had many patients with undiagnosed inflammatory conditions who were visiting the NIH Clinical Center and the doctors were just unable to diagnose them. That’s when the team had an idea that “instead of starting with symptoms first, they started with a list of genes. Then, study the genomes of undiagnosed individuals and see where it takes us,” he added.
In a notification on Tuesday, the New England Journal of Medicine, revealed that the disease has already killed 40 percent of known patients who suffer from symptoms of the newly discovered genetic disease. However, their discovery is hailed by medical and scientific professionals as it may lead to effective therapies for the disease.