Exploring the early stages of Duchenne muscular dystrophy to help treat it sooner

Duchenne muscular dystrophy (DMD) is caused by changes in a gene that makes a protein called dystrophin. The protein helps protect muscles and keep them working properly.

New treatments are being developed, but many are only made available once symptoms appear or when people are older – often between the ages of four and six. But research suggests DMD may start much earlier, even before birth. This means that muscle damage could already be happening before treatment begins.

To treat DMD earlier, scientists need to understand how it starts. Scientists often use animals to study conditions like DMD. While animals aren’t exactly like humans, some have similar parts of the body or processes, which can help researchers understand how diseases work and how treatments might help. But it’s hard to study the very early stages of development in many commonly used animals.

To solve this, Professor Gorecki and his team are using frogs. Tadpoles (young frogs), grow outside the adult frog’s body, which makes it easier to watch them develop.

Frogs have a gene that makes dystrophin, just like humans. The team has changed this gene so the frogs can’t make dystrophin, which copies what happens in people with DMD. This new frog model could help scientists learn how DMD starts and how to treat it earlier.

Professor Gorecki’s team wants to understand how DMD affects the body in its earliest stages. They hope to find out if treating it earlier could help stop or slow it down.

Their main goals are:

1. Learn how dystrophin affects development
The dystrophin gene makes different versions of the protein at different times and in different parts of the body. Some help muscles grow, while others support the brain. The team will use the frog model to study which versions are active early on and what happens when they’re missing. They’ll look at how muscles form, how inflammation develops, and how well the frogs move.

2. Explore how DMD affects the brain
DMD can cause learning and behaviour problems, but scientists aren’t sure why. This project will look at how missing different versions of dystrophin affects brain cells and behaviour. The team will use tests to track memory and anxiety in frogs.

3. Test early treatment
The team will try giving frogs a shortened but working version of the dystrophin gene (called micro-dystrophin) at different stages of development. They’ll see if this can slow down or even stop the condition before it gets worse.

This research could help change how DMD is treated. Right now, treatment often starts after the age of four or when symptoms appear. But this study could show that treating DMD earlier may delay or even prevent muscle damage. While this approach is still in its early stages and more research is needed, it could one day lead to earlier treatment for people with DMD.