Gene regulating severity of tissue damage caused by rheumatoid arthritis discovered by scientists

  • New protein regulates severity of tissue damage caused by rheumatoid arthritis
  • Patients with arthritis could be identified early and fast-tracked to aggressive treatments

Scientists have identified a new protein (C5orf30) which regulates the severity of tissue damage caused by rheumatoid arthritis (RA), an autoimmune disease that causes inflammation, pain, stiffness and damage to the joints of the feet, hips, knees, and hands.

ArthritisFollowing the discovery published in the scientific journal PNAS, RA patients most likely to suffer the severest effects of the condition can now be identified early and fast-tracked to the more aggressive treatments available.

Although there is no cure for RA, new effective drugs are increasingly available to treat the disease and prevent deformed joints. Self-management of the condition by patients, including exercise, is also known to reduce pain and resulting disability.

The study led by an international team of scientists from the University of Sheffield and University College Dublin, funded by Arthritis Ireland and the University of Sheffield, analysed DNA samples and biopsy samples from the joints of over 1,000 RA patients in Sheffield and Ireland.

“Our findings provide a genetic marker that could be used to identify those RA patients who require more aggressive treatments or personalised medicine,” said Professor Gerry Wilson, from the UCD School of Medicine and Medical Science at the University College Dublin and Honorary Professor at the University of Sheffield, who led the research.

“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.”

Dr Munitta Muthana from the Medical School at the University of Sheffield, who co-authored the study, said: “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.”

RA is the most common inflammatory type of arthritis affecting around one per cent of the population. It is estimated that 30 per cent of patients with RA are unable to work within 10 years of the onset of the condition. It affects more women than men, and often more severely. It is also most common between the ages of 40 and 70, but it can affect people of any age, including children.

One of the biggest difficulties with treating the condition is early diagnosis. With early diagnosis and aggressive treatment, it is possible to reduce the damage to the joints caused by RA. Deciding the most appropriate treatment for each patient at the earliest possible stage is central to effectively tackling the condition.

John Church, CEO at Arthritis Ireland, said: “Investing in research to find new treatments and ultimately a cure for arthritis is one of our key objectives at Arthritis Ireland.

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. This discovery is further proof that we are in the right space and investing our money wisely.”

Additional information

The scientific paper is available to download from the PNAS website: http://www.pnas.org/content/early/2015/08/27/1501947112.full.pdf

Arthritis Ireland
This research was partly funded by Arthritis Ireland. In Ireland, it is estimated that some 40,000 people have the severe inflammatory auto-immune condition called rheumatoid arthritis (RA). 70% of these rheumatoid arthritis patients are women.
In the UK, around 700,000 people are reported to have rheumatoid arthritis (RA).
In the US, approximately 1.5 million US adults have rheumatoid arthritis (RA) and as with other countries these numbers are expected to rise in future years.

University of Sheffield
With almost 26,000 of the brightest students from around 120 countries, learning alongside over 1,200 of the best academics from across the globe, the University of Sheffield is one of the world’s leading universities. A member of the UK’s prestigious Russell Group of leading research-led institutions, Sheffield offers world-class teaching and research excellence across a wide range of disciplines. Unified by the power of discovery and understanding, staff and students at the university are committed to finding new ways to transform the world we live in. In 2014 it was voted the number one university in the UK for Student Experience by Times Higher Education and in the last decade has won four Queen’s Anniversary Prizes in recognition of the outstanding contribution to the United Kingdom’s intellectual, economic, cultural and social life. Sheffield has five Nobel Prize winners among former staff and students and its alumni go on to hold positions of great responsibility and influence all over the world, making significant contributions in their chosen fields. Global research partners and clients include Boeing, Rolls-Royce, Unilever, AstraZeneca, Glaxo SmithKline, Siemens and Airbus, as well as many UK and overseas government agencies and charitable foundations.

The Medical Research Council (MRC)
The MRC is at the forefront of scientific discovery to improve human health. Founded in 1913 to tackle tuberculosis, the MRC now invests taxpayers’ money in some of the best medical research in the world across every area of health. Thirty-one MRC-funded researchers have won Nobel prizes in a wide range of disciplines, and MRC scientists have been behind such diverse discoveries as vitamins, the structure of DNA and the link between smoking and cancer, as well as achievements such as pioneering the use of randomised controlled trials, the invention of MRI scanning, and the development of a group of antibodies used in the making of some of the most successful drugs ever developed. Today, MRC-funded scientists tackle some of the greatest health problems facing humanity in the 21st century, from the rising tide of chronic diseases associated with ageing to the threats posed by rapidly mutating micro-organisms. www.mrc.ac.uk

Contact

For further information please contact:

Amy Pullan
Media Relations Officer
University of Sheffield
0114 222 9859
a.l.pullan@sheffield.ac.uk

Dominic Martella
Media Relations Officer
University College Dublin
+353 +1 716 1681
dominic.martella@ucd.ie