Using DNA-sequencing methodologies, the researchers found that the mosaicism was indeed present in the patients’ myeloid cells, which are responsible for systemic inflammation and act as the first line of defense against infections.
Sequencing determines the exact order of the bases in a strand of DNA. The research scientists found which cells are responsible for systemic inflammation and act as the first line of defense against infections. They also identified the gene that is intricately linked to VEXAS, which is caused by a variety of mutations in the UBA1 gene.
As mentioned above, the symptoms of VEXAS include blood clots in veins, persistent fevers, pulmonary abnormalities (high blood pressure in lung arteries), and vacuoles which are cavity-like structures in myeloid cells.
VEXAS is a life-threatening disease. So far, 40% of VEXAS patients studied by the team have died.
Researchers believe that the genome-first strategy will help healthcare professionals to improve diagnosis and provide better treatment for thousands of patients who have VEXAS inflammation-related conditions.
