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"The VEXAS syndrome" : Scientists discover a rare and deadly inflammatory disorder.

"The VEXAS syndrome" : Scientists discover a rare and deadly inflammatory disorder.

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 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.

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