Collagen 6 genes make a range of proteins that are important for the protection and stabilisation of muscle cells. Mutations in collagen 6 genes (particularly COL6A1, COL6A2 and COL6A3) cause congenital muscular dystrophies, like Bethlem myopathy and Ullrich congenital muscular dystrophy.
What are the aims of the project?
Skeletal muscle stem cells (satellite cells) are involved in the growth, maintenance, and regeneration of skeletal muscle. This 12-month project aims:
to investigate whether satellite cells from mice that lack one form of collagen VI (specifically Col6a2) work differently, and
to determine whether satellite cells taken from Col6a2-deficient mice contribute to the regeneration of skeletal muscle.
Why is this research important?
This project will help us to understand the basic biology of satellite cells, and the role that collagen VI plays in their function. It will support a better understanding of the wider effects of collagen VI and may increase our understanding of the myopathies caused by changes in the collagen VI gene.