According to a story from Medical Xpress, a team of scientists from Michigan State University have managed to reveal the manner in which a genetic malfunction can lead to the development of the autoimmune disease ankylosing spondylitis. The gene in question is called ERAP1, and while the medical community understood that dysfunctions of the gene were connected to the condition, the precise mechanism behind this link was not clear until now.
About Ankylosing Spondylitis
Ankylosing spondylitis is a long term type of arthritis that causes inflammation of the spinal joints. The joints connecting the spine and pelvis are often affected as well. The precise cause of the condition is not well understood. This disease can cause symptoms throughout the body, which can include swelling of the knees and feet, long term back pain, worsening joint stiffness, fever, fatigue, weight loss, lung fibrosis, and eye inflammation. It can often appear in the teenage years. Treatment is mostly symptomatic, and can include a variety of medications, physical therapy, and surgical procedures in severe cases. The severity of the disease varies widely, but life expectancy is reduced in the most debilitating cases. To learn more about ankylosing spondylitis, click here.
An Immune System Gone Awry
Ankylosing spondylitis and other arthritis-type conditions are classified as autoimmune diseases. This means that the cause of symptoms involves an improper response from the body’s own immune system that causes it to attack and damage otherwise healthy tissue. When the normal activity of the ERAP1 gene is impeded, a type of immune cell called Tr1s is lost. This activity was demonstrated in mice.
The loss of Tr1s probably plays a major role in the onset of ankylosing spondylitis. This is because Tr1s cells are directly responsible for the regulation of immune system responses and can prevent the system from attacking healthy tissue. Without these cells, the immune system is much more likely to start causing unnecessary damage. In a sense, the system loses its ability to distinguish between normal body cells and dangerous, disease causing pathogens.
While there is more research work to be done on this subject, it is possible that a therapy which reintroduces Tr1s cells into the patient could be in the future. Check out the original study here.
