Mij
Senior Member (Voting Rights)
Insights Into a New Disease
Scientists recently discovered a new disease, called VEXAS, which can appear suddenly in midlife. It’s characterized by repeated attacks of inflammation, often without a clear cause. The inflammation, researchers found, is caused by the body’s disease defense system, or immune system, attacking its own cells. Studies are now uncovering what leads to the onset of this newly discovered disease.
People with VEXAS can have different symptoms. Some get fevers, rashes, or fatigue. Others may have inflammation of different organs. VEXAS often affects the blood and bone marrow. It can also affect the lungs and cause coughing and shortness of breath.
Scientists recently discovered that VEXAS is caused by mutations, or changes, to a gene called UBA1 in blood cells. This gene is located on the X chromosome. Women have two X chromosomes, whereas men only have one. That means women have two copies of the gene, but men only have one. In men, mutations to their only copy of the gene can be enough to get the disease. But in women, mutations would have to occur in both copies. So VEXAS typically affects men.
The UBA1 gene has instructions for the body to make a protein called the ubiquitin-activating enzyme 1, or E1 enzyme. This enzyme identifies and marks damaged or unneeded proteins so they can be removed from the body. Mutations to the UBA1 gene can make the E1 enzyme stop working properly. This leads to the buildup of damaged or unneeded proteins inside cells. The buildup of defective proteins appears to activate the body’s disease defense system, leading to inflammation.
The genetic mutations that cause VEXAS aren’t inherited from your parents. Instead, they’re acquired during your life. Genes can become mutated when your DNA is being copied to make new cells. Exposure to certain types of radiation or chemicals can also cause mutations.
“Part of normal aging is that all our cells develop mutations,” explains Dr. David Beck, a geneticist at New York University who was on the team that first discovered VEXAS. “It’s just normal wear and tear on our cells as we get older.”
Most mutations don’t have any health consequences. But a mutation in the UBA1 gene does. Beck and his team estimated that about 1 in 13,600 people have mutations that can cause VEXAS. Among people older than 50, the prevalence is 1 in 8,000. For men over 50, it’s almost 1 in 4,000. Because the symptoms are so variable, the best way to know if you have VEXAS is through genetic testing for mutations in UBA1.
Since VEXAS was only recently identified, researchers are still figuring out the best ways to treat it. Steroids or other drugs that stop the body’s immune system response can calm inflammation. Drugs that treat certain blood cancers are being tested for treating the effects of VEXAS on blood and bone marrow.
NIH is currently recruiting participants for a clinical trial to see if bone marrow transplants can treat VEXAS syndrome. Find more about this trial.
“We’re still learning about this disease,” Beck says. “It’s only been recognized for the last few years. So a lot more work needs to be done.”
Scientists recently discovered a new disease, called VEXAS, which can appear suddenly in midlife. It’s characterized by repeated attacks of inflammation, often without a clear cause. The inflammation, researchers found, is caused by the body’s disease defense system, or immune system, attacking its own cells. Studies are now uncovering what leads to the onset of this newly discovered disease.
People with VEXAS can have different symptoms. Some get fevers, rashes, or fatigue. Others may have inflammation of different organs. VEXAS often affects the blood and bone marrow. It can also affect the lungs and cause coughing and shortness of breath.
Scientists recently discovered that VEXAS is caused by mutations, or changes, to a gene called UBA1 in blood cells. This gene is located on the X chromosome. Women have two X chromosomes, whereas men only have one. That means women have two copies of the gene, but men only have one. In men, mutations to their only copy of the gene can be enough to get the disease. But in women, mutations would have to occur in both copies. So VEXAS typically affects men.
The UBA1 gene has instructions for the body to make a protein called the ubiquitin-activating enzyme 1, or E1 enzyme. This enzyme identifies and marks damaged or unneeded proteins so they can be removed from the body. Mutations to the UBA1 gene can make the E1 enzyme stop working properly. This leads to the buildup of damaged or unneeded proteins inside cells. The buildup of defective proteins appears to activate the body’s disease defense system, leading to inflammation.
The genetic mutations that cause VEXAS aren’t inherited from your parents. Instead, they’re acquired during your life. Genes can become mutated when your DNA is being copied to make new cells. Exposure to certain types of radiation or chemicals can also cause mutations.
“Part of normal aging is that all our cells develop mutations,” explains Dr. David Beck, a geneticist at New York University who was on the team that first discovered VEXAS. “It’s just normal wear and tear on our cells as we get older.”
Most mutations don’t have any health consequences. But a mutation in the UBA1 gene does. Beck and his team estimated that about 1 in 13,600 people have mutations that can cause VEXAS. Among people older than 50, the prevalence is 1 in 8,000. For men over 50, it’s almost 1 in 4,000. Because the symptoms are so variable, the best way to know if you have VEXAS is through genetic testing for mutations in UBA1.
Since VEXAS was only recently identified, researchers are still figuring out the best ways to treat it. Steroids or other drugs that stop the body’s immune system response can calm inflammation. Drugs that treat certain blood cancers are being tested for treating the effects of VEXAS on blood and bone marrow.
NIH is currently recruiting participants for a clinical trial to see if bone marrow transplants can treat VEXAS syndrome. Find more about this trial.
“We’re still learning about this disease,” Beck says. “It’s only been recognized for the last few years. So a lot more work needs to be done.”