How does the RUNX3 gene increase the likelihood of developing ankylosing spondylitis?

Disease - Ankylosing spondylitis

Lead applicant - Dr. Matteo Vecellio

Organisation - University of Oxford

Type of grant - Career Development Fellowship

Status of grant - Active

Amount of the original award - £317,838.35

Start date - 1 June 2017

Reference - 21428

Public Summary

What are the aims of this research?

Ankylosing spondylitis (AS) is an inflammatory condition that affects the joints in your spine. The genes you inherit from your parents can increase the likelihood of developing AS, and it is known that at least 60 genes are involved in this process, most of which are thought to be involved in controlling the immune response. One of these genes is responsible for the production of a protein called RUNX3, which is important in controlling other genes and influencing the development of immune cells in AS. This project aims to see if the RUNX3 gene can be targeted for the development of new and effective treatments.

Why is this research important?

In AS, inflammation of the spine causes the body to lay down calcium where the ligaments attach to the bones that make up the spine (vertebrae). This reduces flexibility in the back and causes new bone to grow at the sides of the vertebrae, eventually causing the bones of the spine to link up or fuse. Typically, AS starts in the joints between your spine and pelvis, but it may spread up towards the neck. The symptoms of AS vary from person to person, but most often causes stiffness and pain in the lower back.

Currently, treatment for AS is limited to physical exercise and pain relief medication, which doesn’t work for everyone and often causes unwanted side effects. There is a need for more effective treatments, so the researchers will use cell lines and cells from people with AS to determine the role of the RUNX3 gene in AS. Using complex data collection and statistics, the researchers will be able to see if the RUNX3 gene could be a suitable target for treatment.

How will the findings benefit patients?

By finding out how the RUNX3 gene acts in AS the researchers will be able to better understand how the condition develops, and start to identify other genes involved in this process. This is important as it is thought that most genes involved in AS development have subtle effects that work together to cause damage. Ultimately, a better understanding of how AS develops will allow for the identification of new and effective treatments that can prevent progression and relieve symptoms.