Osteoarthritis breakthrough: Researchers discover genes linked to disease

Osteoarthritis is a type of arthritis that impacts joints, causing them to become painful and stiff. Some patients experience swelling, tenderness in their knees, back, neck and hips, with around 630 million people worldwide currently living with the painful condition.

While there’s currently no cure for osteoarthritis, researchers have discovered 52 new genetic changes linked to the disease, doubling the current number of genetic regions associated with the health issue.

In the largest genetic study of osteoarthritis to date, researchers from the Wellcome Sanger Institute analysed more than 77,000 people with the condition and discovered the new genes and biological pathways associated with osteoarthritis. It is hoped the discovery will identify starting points for new medicines, as well as opportunities for existing medicines to be evaluated.

Osteoarthritis is currently managed with pain relief medication or joint replacement surgery, but outcomes vary from person to person. It is the most prevalent musculoskeletal disease in the world and a leading cause of disability.

For the study, which was published in Nature Genetics Journals, researchers used data from the UK Biobank resource and the arcOGEN study (a study involving a UK-wide consortium funded by Arthritis Research UK) and analysed more than 370,000 healthy people in addition to the 77,000 with various types of osteoarthritis. To discover which genes caused osteoarthritis, researchers incorporated additional functional genomic data and analysed gene activity by measuring gene expression down to the protein level.

By incorporating different data sets such as genetic and proteomic data on tissue taken from patients undergoing joint replacement surgery, researchers were able to identify the genes most likely to cause osteoarthritis. They highlighted 10 genes as targets of existing drugs used against osteoarthritis and other diseases.

These drugs, both in clinical development or approved for use, included INVOSSA (used for knee osteoarthritis) and LCL-161 (a clinical drug for treatment of breast cancer, leukaemia and myeloma).

“We know that the condition impacts people in different ways, meaning the treatment that works for one person doesn’t always work for someone else,” arcOGEN researcher Stephen Simpson said in a statement. “This study represents a hugely important milestone towards understanding the complexity of osteoarthritis and finding new treatments and we are delighted that our support for the arcOGEN study has helped deliver this.

“In the long term, the research progresses us significantly on the journey to ending the pain, isolation and fatigue of those living with arthritis.”

The material can penetrate deep into the cartilage, allowing medication to enter bones that has the potential to heal damaged tissue, according to the study published in the Science Translational Medicine Journal. Medication is currently available to alleviate the pain, but these aren’t effective in reversing or slowing down the cartilage breakdown associated with the disease, as the material is thought to be.

Are you living with arthritis? How do you best manage the painful symptoms?

 

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