Scientists pinpoint where changes occur in a protein linked to collagen VI-related muscular dystrophies
For the first time, scientists from the University of Manchester have shown exactly where genetic changes affect a protein called collagen VI, stopping it from working properly. These changes can lead to collagen VI-related muscular dystrophy, including Bethlem myopathy and Ullrich congenital muscular dystrophy.
Collagen VI is part of a network that helps hold muscle cells together and keep tissues strong. But because it’s a large and complex protein, it’s difficult to study in detail. To get around this, the team created smaller versions of the protein, called mini-collagens, that still show the important parts of its structure.
They then used a powerful microscope to look at these mini-collagens in very high detail. This allowed them to see the protein’s structure clearly and pinpoint the exact areas where genetic changes cause problems.
The research is still at an early stage, but it gives scientists a better understanding of what’s going happening in the body. In the future, this could help them develop treatments that target the changed parts of the protein.