Healthy Living

New Gene Mutations Found in Patients with Rheumatoid Arthritis

New Gene Mutations Found in Patients with Rheumatoid Arthritis

Genetics play a vital part in rheumatoid arthritis. The role that genetics play in the development of rheumatoid arthritis is of great curiosity to patients, physicians, and researchers alike. Gene mutation is frequently discussed with other conditions, including cancer. It has not been discussed with rheumatoid arthritis with the same intensity. However, there have been discussions about the causes of rheumatoid arthritis for a long time. Could gene mutation be responsible? Or are other causes more prevalent? Are there variations from case to case? Is there anything you can do to protect yourself or future generations? So many questions are unanswered. There is much to explore on this topic.


Research has discovered that gene mutations that are found in somatic cells are significant in cancer research. Understanding biology can lead to a greater understanding of how rheumatoid arthritis forms in the body. Researchers from the University of Helsinki and Helsinki Central Hospital studied the link. They found that this mutation was also present in rheumatoid arthritis patients. Certain genes were more prone to mutations than others. The genes important to the immune systems were most affected. It is likely that the mutations are related to the regulation of the inflammatory process. In a study of eighty-five patients and twenty control persons, researchers found one fifth had the mutation. The mutations were found in the killer T cells. Interestingly enough, they were not found in the helper T cells. This could have ramifications for how the disease plays out in patients. There is also a possibility that some people with the mutation do not get rheumatoid arthritis. This could have to do with genetic dominance factors or other reasons.

T cells in the body are a complicated subject. T cells can recognize countless different protein structures. Some of these structures are in pathogens. The receptors for the cells are found in the thymus, where the T cells are connected to a receptor. During the immune defense, the T cells multiply. Cloned cells are formed, which are identified by the reorganization of the receptors. This background is important for rheumatoid arthritis because it is the cloned T cells that held the mutations. This finding indicates the stage of the process that the mutation occurs. This means the mutations are permanent and remain for many years. Specifically, the mutation occurs in mature T cells. One factor that we don’t have the answer for is how to reverse the process or intercept it when the cells are younger.

Still, there is much to be discovered about this new development. For example, researchers were not able to discover exactly how the mutations affect chronic inflammations. That is crucial for rheumatoid arthritis because stopping inflammation is a main concern of patients. Like cancer, it is possible that autoimmune diseases are impacted on a molecular level.

More research is needed to figure out how these mutations affect rheumatoid arthritis. There may be ways to stop the mutation in progress. It is also theoretically possible to strengthen the T cells to become resistant to the mutation. With diseases disease like HIV and cancer, many new therapies are being invented to target the T cells. While each one has a different purpose, this could be encouraging news for those with rheumatoid arthritis. Whatever direction the research takes us, it will be an exciting time for medical research when a cause and cure are pinpointed.

Other Factors

Beyond this, there have been many other studies to try to pinpoint the cause of rheumatoid arthritis. Like the study mentioned above, a study at Hospital for Special Surgery (HSS) identified a new cell signaling pathway. This pathway can contribute to the development and progression of inflammatory bone erosion. That is significant to rheumatoid arthritis patients because many have brittle bones and teeth due to the disease. Bone erosion can make your life difficult and even leave you permanently disabled. This study looked at the underlying causes of bone erosion. Like the study at the University of Helsinki, they found that the disease might be linked to genes. The gene in question is the RBP-J gene. Patients with rheumatoid arthritis have less of this gene. The question remains how this gene itself affects rheumatoid arthritis. Is bone density the only result? Are there other symptoms that gene expression could be linked to? Beyond identifying the gene, more must be researched on the gene itself. One question is whether the gene is recessive in rheumatoid arthritis patients. Sequencing of the genome can provide more information. Once sequencing is complete, a way to mitigate the gene effect can be researched.

While this is encouraging information for rheumatoid arthritis patients, it can also be frustrating. This research is still very preliminary and much more is needed to pinpoint an exact cause. How other factors influence these genes also remains to be seen. For example, can environmental factors play a role? These can include the parent's diet, smoking habits, or drinking water. There is also the possibility the genes are influenced by the patients themselves, especially with the gene mutation. All these factors make it challenging for researchers to find causation.

How This Impacts You as a Patient

As a patient, you will have to wait for more research to develop. It is difficult to predict how long a breakthrough will take in science. This is exciting progress, but it may be a while before a cure is established. There are many other things you can do to make your life more manageable in the meantime. Try out new foods and vitamins under the supervision of your medical care team. In addition, new medicines are in trials all the time. It is quite possible for one to make it through the approval process eventually. You can rely on the emotional support of family or a therapist. Knowing your symptoms and asking for help when you feel strain will prevent you from getting injured. You can work with professionals to strengthen yourself and adapt your lifestyle. With new technology, there are many tools to make your life more manageable. Be creative and you may reap the rewards. Ask your doctor about clinical trials, too.

Lastly, a great way to help science is to participate in fundraising. There are many foundations that support research. Find one and volunteer. This is a way to actively look for a cure, even if you are not a scientist or researcher.

The Bottom Line

The hard part about rheumatoid arthritis is that causation and a cure are not currently known. However, researchers and scientists are finding new possible causes of the disease every day. It’s clear that genes have a large role in developing rheumatoid arthritis. However, the specific gene and their impact on the body still requires further research. Eventually, many or all of the causes will be identified. Once this happens, the search for treatments and a cure will become much easier. Being optimistic may be difficult if you are in pain, but it is possible.


Hospital for Special Surgery. (2014, October 21). Rheumatoid arthritis: Researchers identify new signaling pathway thought to play a role. ScienceDaily. Retrieved July 10, 2017, from

The University of Helsinki. "New gene mutations found in white blood cells in patients with rheumatoid arthritis." ScienceDaily. ScienceDaily, 21 June 2017.

Key Takeaways

  • Genetics play a vital part in rheumatoid arthritis.
  • In a study of eighty-five patients and twenty control persons, researchers found one fifth had the mutation.
  • The hard part about rheumatoid arthritis is that causation and a cure are not currently known.