Brain UK study ref: 26/009,

Lay summary,

Project status: Active

Spatial transcriptome mapping of the inflamed muscle microenvironment in rare disease juvenile dermatomyositis

Dr Meredyth Wilkinson, UCL GOS Institute of Child Health

Juvenile dermatomyositis (JDM) is a rare disease in children. It causes swelling and damage in the muscles and skin. This leads to weakness, pain, and problems that can last a long time. There are treatments for JDM, but they don’t work well for every child. It can take months or even years to find the right treatment for each patient.
We need to understand this disease better, so we can create treatments that work and are tailored to each child.
Our earlier research found that JDM isn’t just about the immune system attacking itself and causing damage. It also involves problems with mitochondria — the tiny parts inside cells that make energy. When mitochondria don’t work properly, this seems to play a big part in JDM. But we still don’t know exactly where in the muscle these problems happen, or which cells are affected the most.

In this project, we will use a new, advanced method called spatial transcriptomics. This lets us study which genes are active inside tissue samples, while keeping the tissue’s structure intact. So we can see not just which genes are switched on or off, but exactly where in the muscle this is happening.
We will study muscle samples from children with JDM and compare them with samples from healthy children. This will let us map out where mitochondrial problems and swelling happen in the tissue, and how this differs from one patient to another.
This study will help us understand how JDM affects muscle, right down to individual cells. This will help show which drugs might work best to fix the problem. In future, this could lead to new tests that classify patients more accurately and help doctors choose the best treatment. It could also point to new ways to target the disease, especially ones linked to mitochondria.