By Stephen Beech via SWNS
Arthritis could be identified much earlier following a major breakthrough.
Two “key” genes have been identified linking the painful condition and the bone disease osteoporosis.
The genes – involved in both diseases – could serve as targets for both diagnosis and treatment, say scientists.
Rheumatoid arthritis is a common disease affecting an estimated 17 million people worldwide.
It is caused by immune cells attacking the joints and can result in pain, swelling, and damage to the cartilage and bone.
People with rheumatoid arthritis often develop osteoporosis, a more serious condition, as a result of the bone damage caused by immune cells and as a side-effect of certain drugs.
Researchers in Taiwan used analysis tools and machine learning algorithms to identify two genes linked to both arthritis and osteoporosis that could serve as diagnostic tools and potential targets for treatments.
They explained that both diseases center on one of the key mechanisms used to keep the rest of the body in check.
Apoptosis – or programmed cell death – is a crucial tool immune cells use to remove malfunctioning or unneeded cells.
But the research team says malfunctions can lead to immune cells mistakenly targeting cells at random, with often disastrous results.
Study author Dr. Hao-Ju Lo. of Da-Chien General Hospital in Taiwan, said: “In rheumatoid arthritis, excessive apoptosis of bone-forming cells contributes to joint destruction and inflammation.
“This same process also leads to weakened bones in osteoporosis, emphasizing the need to manage both conditions simultaneously.”
Because of its central role, the research team set out to find genes involved with apoptosis that were closely linked to both diseases.
They gathered dozens of sequenced genomes from people with arthritis and osteoporosis to look for any similarities.
Sifting through the vast amount of genetic data was no easy task, so they turned to recently developed computational methods to narrow down their search.
Dr. Lo said: “We used bioinformatics tools to analyze large gene datasets, focusing on genes active in rheumatoid arthritis and osteoporosis.
“We applied machine learning techniques, such as Lasso and Random Forest, to refine our search, identifying two key genes – ATXN2L and MMP14 – that play significant roles in both diseases.”
The team’s findings, published in the journal APL Bioengineering, showed that the two genes are “significantly associated” with the progression of both rheumatoid arthritis and osteoporosis.
Dr. Lo says ATXN2L has a role in regulating processes such as apoptosis, so malfunctions in the gene are likely to trigger both rheumatoid arthritis and osteoporosis.
He explained that MMP14 contributes to building extracellular tissue, such as cartilage, and could be responsible for the breakdown of joint tissue that leads to arthritis.
Dr. Lo said: “Our analysis revealed that these genes are involved in immune regulation and bone metabolism, suggesting they could be useful markers for diagnosing or treating both rheumatoid arthritis and osteoporosis.”
With two potential targets identified, the Taiwanese team plans to use the results as a starting point to develop new treatment options for patients suffering from the two linked diseases.
Dr. Lo said: “We plan to validate these findings with experimental studies and explore how targeting these genes could improve treatment outcomes.”
He added: “Our future research may also involve developing personalized therapies, leveraging AI and machine learning to predict which patients are most at risk for osteoporosis.”
