About Careers Internship MedBlog Contact us
Medindia LOGIN REGISTER
Advertisement

New Genetic Cause of Juvenile Idiopathic Arthritis Identified

by Colleen Fleiss on January 26, 2019 at 7:06 PM
New Genetic Cause of Juvenile Idiopathic Arthritis Identified

By investigating the DNA of identical twin toddlers with juvenile idiopathic arthritis, a 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.

Advertisement


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.
Advertisement

"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 the moment. Thanks to the new scientific findings, their doctors will be in a much better position to treat any future flare-ups.

Source: Eurekalert
Font : A-A+

Advertisement

Advertisement
Advertisement

Recommended Readings

Latest Child Health News

Do Adverse Drug Reactions Cause Autism Spectrum Disorder?
Side-effects of valproate drug taken during pregnancy, enhance the expression of Rnf146 gene, causing autism spectrum disorder in fetus.
Amblyopia or Poor Vision in Kids - Does Digital Vision Training Help?
Children with amblyopia or lazy eye who underwent digital vision training, showed no appreciable improvement in their eyesight.
Childhood Malnutrition Linked to Stunted Growth and Mortality Risk
In 2022, over 20% of children worldwide lacked adequate calories for growth, with 45+ million showing wasting (underweight for height).
Pneumococcal Vaccines Reduce Severe Infections in Kids With Sickle Cell Disease
After PCV7 licensure, pneumococcal infection rates in children aged 5+ with sickle cell disease significantly decreased.
Breast Milk Proteins to Boost Baby's Gut Health
Breast milk concentration of certain key proteins indicates abundance of healthy bacteria in babies' guts.
View All
This site uses cookies to deliver our services.By using our site, you acknowledge that you have read and understand our Cookie Policy, Privacy Policy, and our Terms of Use  Ok, Got it. Close
MediBotMediBot
Greetings! How can I assist you?MediBot
×

New Genetic Cause of Juvenile Idiopathic Arthritis Identified Personalised Printable Document (PDF)

Please complete this form and we'll send you a personalised information that is requested

You may use this for your own reference or forward it to your friends.

Please use the information prudently. If you are not a medical doctor please remember to consult your healthcare provider as this information is not a substitute for professional advice.

Name *

Email Address *

Country *

Areas of Interests