Identical twin toddlers who presented with severe arthritis helped scientists to identify the first gene mutation that can single-handedly cause a juvenile form of this inflammatory joint disease. By investigating the DNA of individual blood cells of both children and then modelling the genetic defect in a mouse model, the research team led by Adrian Liston (VIB-KU Leuven) was able to unravel the disease mechanism. The findings may help to develop an appropriate treatment as well.
Juvenile idiopathic arthritis is the most common form of all childhood rheumatic diseases. It is defined as arthritis that starts at a young age and persists throughout adulthood, but which does not have a defined cause. Patients present with a highly variable clinical picture, and scientists have long suspected that different combinations of specific genetic susceptibilities and environmental triggers drive the disease.
A single gene mutation
In a new study by researchers at VIB, KU Leuven and UZ Leuven, the cause of juvenile arthritis in a young pair of identical twins was traced back to a single genetic mutation.
“Single-cell sequencing let us track what was going wrong in every cell type in the twin’s blood, creating a link from genetic mutation to disease onset,” explains Dr. Stephanie Humblet-Baron (VIB-KU Leuven), one of the researchers involved in the study. “It was the combination of next generation genetics and immunology approaches that allowed us to find out why these patients were developing arthritis at such a young age.”
Modelling a human disease in mice
Parallel studies in mice confirmed that the gene defect found in the patients’ blood cells indeed led to an enhanced susceptibility to arthritis. Prof. Susan Schlenner (VIB-KU Leuven), first author of the study, stresses the relevance of this approach: “New genetic editing approaches bring mouse research much closer to the patient. We can now rapidly produce new mouse models that reproduce human mutations in mice, allowing us to model the disease of individual patients.”
According to immunology prof. Adrian Liston (VIB-KU Leuven) such insights prove invaluable in biomedical research: “Understanding the cause of the disease unlocks the key to treating the patient.”
From cause to cure
Liston’s team collaborated closely with prof. Carine Wouters (UZ Leuven), who coordinated the clinical aspect of the research: “The identification of a single gene that can cause juvenile idiopathic arthritis is an important milestone. A parallel mouse model with the same genetic mutation is a great tool to dissect the disease mechanism in more detail and to develop more effective targeted therapies for this condition.”
And the young patients? They are relieved to know that scientists found the cause of their symptoms: “We are delighted to know that an explanation has been found for our illness and more so because we are sure it will help other children.”
Thankfully, the youngsters’ arthritis is under good control at th?e moment. Thanks to the new scientific findings, their doctors will be in a much better position to treat any future flare-ups.
The Latest on: Juvenile idiopathic arthritis
via Google News
The Latest on: Juvenile idiopathic arthritis
- ‘I can’t risk catching Covid’ – young arthritis patient tells of upset at cancelled hip operations due to pandemicon January 5, 2021 at 6:30 pm
A woman who has been cocooning since the start of the pandemic has spoken of her disappointment after urgent hip replacement surgery was delayed for a fourth time.
- OhioHealth expert answers frequently asked COVID-19 vaccine questionson December 29, 2020 at 2:45 pm
“She has juvenile idiopathic arthritis and with that, that’s like rheumatoid arthritis, and her immune system goes overboard and attacks her body,” Amy said. Madison takes a lot of ...
- OhioHealth expert answers frequently asked COVID-19 vaccine questionson December 29, 2020 at 2:42 pm
Many still have questions about the COVID-19 vaccine specifically about underlying health conditions. It’s been a year full of worry for Amy Fouts and her 15-year-old daughter Madison. While being a ...
- Role of Methotrexate in Juvenile Idiopathic Arthritison December 28, 2020 at 4:00 pm
Methotrexate (MTX) is the widely agreed upon first-choice second-line agent to treat juvenile idiopathic arthritis (JIA), up to 75% of JIA patients in recent registries have used MTX at some time ...
- Innovent Biologics gets China NMPA approval for Sulinno to treat pediatric plaque psoriasis and non-infectious uveitison December 24, 2020 at 7:00 am
Previous approved indications of Sulinno include rheumatoid arthritis, ankylosing spondylitis, psoriasis, and polyarticular juvenile idiopathic arthritis. Since the launch of adalimumab, it has been ...
- Medexus in exclusive license deal with Europe’s Ethypharm to register and commercialize Triamcinolone Hexacetonide in USon December 18, 2020 at 10:26 am
including rheumatoid arthritis, juvenile idiopathic arthritis, osteoarthritis and post-traumatic arthritis, synovitis, tendinitis, bursitis and epicondylitis, or tennis elbow. “It is the ...
- Medexus Enters into Exclusive License to Register and Commercialize Triamcinolone Hexacetonide (TH) in the United States with Ethypharmon December 18, 2020 at 5:30 am
rheumatoid arthritis, juvenile idiopathic arthritis (JIA), osteoarthritis and post-traumatic arthritis, synovitis, tendinitis, bursitis and epicondylitis. It is the longest-acting corticosteroid ...
- Sandoz Canada receives authorization from Health Canada to launch new biosimilar Hyrimoz® (adalimumab)on December 17, 2020 at 7:45 am
life-threatening or serious debilitating conditions in adults and children as the reference medicine*, including the treatment of rheumatoid arthritis, polyarticular juvenile idiopathic arthritis ...
- Understanding Juvenile Rheumatoid Arthritison December 11, 2020 at 8:56 am
Juvenile rheumatoid arthritis, also known as juvenile idiopathic arthritis, is the most common type of arthritis in children under the age of 17. Juvenile rheumatoid arthritis causes persistent ...
- Role of Methotrexate in Juvenile Idiopathic Arthritison December 1, 2020 at 4:00 pm
Methotrexate is a cornerstone of therapy worldwide for juvenile idiopathic arthritis, yet there remains vast variability in drug dosing and administration, as well as unpredictable outcomes on the ...
via Bing News