A gene that is responsible for the regulation of tissue damage resulting from inflammatory rheumatoid arthritis has been discovered in patients with the painful autoimmune condition.
In what is being called exciting news in the international rheumatology community, researchers have identified this particular gene that regulates the severity of tissue damage that RA patients often live with.
It may also predict which patients will eventually develop a more severe and disabling form of the condition.
A Gene Called C5orf30
The gene, or, more aptly, genetic protein, is called C5orf30. It was discovered by researchers in Ireland.
The discovery was published in the scientific medical journal Proceedings of the National Academy of Sciences (PNAS).
Researchers say that finding a unique and specific genetic marker like this could help provide RA patients with more personalized treatment options earlier in their course of treatment.
The discovery could mean that patients who have RA or who are prone to get RA may be identified early and treated right away. They can be fast-tracked to an aggressive and custom-tailored treatment plan immediately following diagnosis.
This genetic discovery won’t prevent the disease and there still isn’t a cure for RA, but it could be a boon for early treatment and effective treatment options for patients.
Dr. Gerry Wilson, a professor at the School of Medicine and Medical Science at the University College Dublin, was the lead researcher on the study.
In a statement to the press, he said, “Our findings provide a genetic marker that could be used to identify those RA patients who require more aggressive treatments or personalised medicine.”
He added, “They also point to the possibility that increasing the levels of C5orf30 in the joints might be a novel method of reducing tissue damage caused by RA.”
How Will C5orf30 Contribute to Personalized Treatments?
This protein, produced by C5orf30, is found in lower amounts among RA patients who go on to develop more severe joint deformity and pain.
The genetic protein helps to regulate tissue damage resulting from rheumatoid arthritis. If people with the potential to develop the most severe cases of RA can be pinpointed early on, they can treat the condition more quickly and more aggressively.
The patients might be able to skip “first line of defense” drugs such as non-steroidal anti-inflammatory drugs (NSAIDs) and opt for the stronger (and sometimes riskier) biologic drugs straight away.
A co-author of the study, Dr. Munitta Muthana from the Medical School at the University of Sheffield, stated, "These exciting findings will prompt us to further explore the role of this highly conserved protein that we know so little about, and its significance in human health and disease."
In the statement to the press, John Church, CEO of Arthritis Ireland, added his thoughts: “Treatments for arthritis have improved enormously over the last number of years. Thirty years ago, rheumatologists' waiting rooms were filled with people in wheelchairs. Today, that is no longer the case. The outlook for a person diagnosed with arthritis in 2015 is much brighter than it used to be. We are getting closer and closer to personalised medicine.”
What Do RA Patients Think?
Sandra Bell Vance of Hoover, Alabama, has had rheumatoid arthritis since she was 21 years old. She is now 37 and uses a walker or crutches to get around.
“I wish that they would have treated me more aggressively and less conservatively when I was first diagnosed. It might not have made a difference, but it might have,” she said.
“Maybe this gene or protein like this,” Vance added, “will allow doctors and rheumatologists to spot people like me who might become more on the disabled side from RA. If it does, maybe those people will get treated better right off the bat.”
Vance expressed optimism for the future.
“It would be great if it could save even one patient from becoming more disfigured or handicapped than they have to be,” she said.