Muscular dystrophies are a group of genetic and hereditary muscle diseases characterized by defects in muscle proteins, death of muscle cells and progressive skeletal muscle weakness. Most are caused by mutations in the genes involved in muscle membrane structure and function.
In Duchenne muscular dystrophy and the related Becker’s muscular dystrophy, for example, degeneration is caused by a genetic fault in the production of a protein in muscle fibres called dystrophin.

In theory, if stem cells containing normal genes could be delivered to muscle in these muscular dystrophies, they could regenerate fully functional muscle fibres. Once at their target they would gradually produce new groups of healthy muscle cells to replace the damaged fibres.

European researchers, led by Giulio Cossu, have achieved good results in a mouse model of muscular dystrophy, using the ‘mesoangioblast’ muscle stem cell, and have recently reported successes in treating golden retriever dogs that have a mutation in their dystrophin gene.

They have also isolated similar mesoangioblast cells from biopsies of human muscle, and are testing these out in the lab, to better understand their properties and see how they might behave if transplanted. Problems still to be overcome include the efficient delivery of stem cells to their target sites, the subsequent integration and survival of the cells they give rise to, and controlling the body’s immune response to a foreign cell.

At the same time, other researchers are focused on basic research into muscle stem cells of both adult and embryonic origin – how to identify, isolate and characterize the stem cells that can generate muscle tissue. Stem cells are, of course just one avenue of research working towards a cure for muscular dystrophy.

Other projects around the world are focused on different routes – from delivering a replacement dystrophin gene to all muscles using a virus, to drug-based approaches to manufacturing a correct form of the dystrophin protein.

Relevant links
Action Duchenne - aims to offer a unique forum for sharing information and ideas in the search for a cure and better medical care for Duchenne and Becker.  This link takes you directly to a blog post by Professor Terry Partridge about stem cells and muscular dystrophy.
Muscular Dystrophy Association
Association Français contre les Myopathies
EuroStemCell poster - cell therapy for muscular dystrophy