Gene mutations aren’t only inherited — they can also happen later in life, sometimes leading to a condition named VEXAS syndrome, found several years ago.
It often starts in midlife and is marked by repeated inflammation as the immune system attacks the body’s own cells.
A New York University geneticist who detected VEXAS explained, “Part of normal aging is that all our cells develop mutations. It’s just normal wear and tear on our cells as we get older.”
The kind of mutation that causes the condition is an acquired mutation in the UBA1 gene discovered in red blood cells.
Unlike inherited mutations, acquired one develops over time due to several factors, including chemicals or radiation.
The UBA1 gene instructs an enzyme to clear the damaged proteins, due to a mutation, the enzyme malfunctions, causing inflammation.
Notably, men are at a higher risk of this disease because they only have one copy of UBA1. Researchers estimated that nearly 1 in 13,600 individuals carry VEXAS-linked mutations, increasing to 1 in 4,000 in men over 50.
VEXAS Syndrome’s symptoms include painful rashes, an inflamed nose and ears, fatigue, anemia, inflammation, and abnormal bone marrow results.
“We’re still learning about this disease, it’s only been recognized for the last few years. So a lot more work needs to be done,” Beck stated.
Scientists are currently exploring treatment options; however, immune-suppressing medications and steroids may ease symptoms, and cancer bone-marrow transplants and chemotherapies are currently being reviewed.
