A new discovery provides an insight into development of the inflammatory rheumatic disease Ankylosing Spondylitis (AS) and could pave the way for earlier diagnosis, potentially slowing progression of the disease.
The University of Southampton reports that scientists have discovered variations in an enzyme belonging to the immune system that makes individuals susceptible to AS. The variation in ERAP1 can be detected by genetic testing, which would enable people to become aware of the risk of the condition at an earlier stage.
AS mainly affects joints in the spine. Symptoms can include back pain and stiffness that improves with exercise and is not relieved by rest; pain and swelling in other parts of the body, such as the hips, knees and ribs; and extreme tiredness.
The condition tends to first develop in teenagers and young adults, with most cases first starting in people aged 20-30.
According to figures from the NHS, Ankylosing Spondylitis is around three times more common in men than in women and there are around 200,000 people in the UK who have been diagnosed with the condition.
There is currently no cure, but treatment can reduce symptoms and pain and very early diagnosis of the disease may help to slow its progression, the university said. At the moment it can take up to 10 years to make a diagnosis, so a genetic test could revolutionise the management of AS, the researchers believe.
Professor Tim Elliott, who led the study with Dr Edd James at the University of Southampton, commented: “These natural variations in ERAP1, which are normally involved in T cell immunity, predispose individuals to Ankylosing Spondylitis. We have also discovered how variations in ERAP1 change its enzyme function – and this means that it might actually be a target for developing new drugs to treat Ankylosing Spondylitis.”
The findings of the study have been published in the Proceedings of the National Academy of Sciences USA.