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Newcastle University unlocking arthritis genetic code

LEADING academics in the North East have made a major step forward which could help develop new treatments for people with arthritis.

John Loughlin, professor of musculoskeletal research at Newcastle University

LEADING academics in the North East have made a major step forward which could help develop new treatments for people with arthritis.

In the largest study of its kind, scientists at Newcastle University have discovered new genetic links associated with the illness in a breakthrough that is offering hope to those with the debilitating condition.

Previously, only three osteoarthritis genetic variants had been identified, but experts have now established eight linked to the condition’s development.

Several of the genetic codes encompass genes that are known to regulate how joints are made and then maintained. Another contains a gene involved in the regulation of body weight, which is a strong risk factor for developing osteoarthritis.

Osteoarthritis can result in debilitating levels of stiffness and pain. It affects around 40% of people over the age of 70 and the incidence of the disease is increasing because people are living longer and because of higher rates of obesity.

John Loughlin, professor of musculoskeletal research at Newcastle University, is spearheading the study.

He said: “It is an exciting development and it is the largest study of this kind ever undertaken. We know that osteoarthritis runs in families and that this is due to the genes that people pass on, rather than their shared environment.

“It is the first time that it has been possible to say with a high degree of confidence which genetic regions are the major risk factors for developing osteoarthritis.

“It has been a surprise to have found the number of genetic regions linked to the condition and it is an important breakthrough.

“What drives us along is our aim to try to establish a cure for the condition and develop new treatments for the future.”

The findings are published today in The Lancet.

The study, funded by Arthritis Research UK, has involved nine institutions from across the UK.

The £2.2m project compared the genetic differences of 7,400 patients with severe osteoarthritis with 11,000 healthy volunteers. The results were then replicated in more than 7,000 osteoarthritis individuals and 43,000 control individuals.

Around 1,500 patients in total were recruited from Newcastle’s Freeman Hospital and Wansbeck General Hospital in Ashington, Northumberland, for the three-year study.

Jacqueline Macmillan, from Beadnall, Northumberland, suffers from hip osteoarthritis and she gave blood samples to the researchers.

The 54-year-old had her first hip replacement within three months of being diagnosed when she was 50, and her second at the age of 53. Both operations have been successful.

She said: “The pain I went through in this short period of time I would not wish on my worst enemy. You can’t do anything to get rid of it, and it affects everything you try to do. Some days I felt that I couldn’t even get out of bed. As soon as I put my foot on the floor I’d get this awful grating pain.

“If it were possible to be able to predict who gets arthritis, it would mean they could change their lifestyle – lose weight, become more active, and so on.

“It wouldn’t have helped me as my osteoarthritis came on so quickly, but at least it wouldn’t have been such a shock.” The results of the study confirmed the three previously reported gene variants and found a further eight linked to osteoarthritis.

Prof Loughlin said that they were not yet able to use their discoveries as a tool to predict who was more or less likely to develop the disease, or to predict the degree of osteoarthritis severity, based on the genes they have inherited.

But what the scientists are able to do is to use the new genetic discoveries to identify key biological pathways that can now be exploited to develop treatments.

Prof Alan Silman, medical director of Arthritis Research UK, said: “This is a major breakthrough in our understanding of osteoarthritis which we hope will help us to unlock the genetic basis of the disease.”

The pain I went through in this short period of time I would not wish on my worst enemy

 

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