Bethlem myopathy and Ullrich congenital muscular dystrophy - Prof K. Bushby

Group/Researcher: Prof K. Bushby


Both Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD) are caused by mutations in the gene that codes for collagen VI - an important structural protein that forms part of the supportive matrix surrounding cells. Even though both these conditions are caused by mutations in the collagen VI gene, they are clinically different . BM is an early onset, slowly progressing condition with relatively mild symptoms. It is characterised by proximal muscle weakness. UCMD is evident at birth and like BM progresses slowly. The symptoms can range from mild to severe however, and include muscle weakness, contractures (loss of motion) of joints, and looseness of joints.

A study on mice with collagen VI mutations suggested that specialised structures within the cell, called mitochondria, might be functioning incorrectly and thus contributing to the development of disease. Mitochondria supply the cells with energy and so they are vital for the efficient functioning of a muscle cell. In these mice, the “malfunctioning” of the mitochondria could be partially reversed by the drug, cyclosporin A. This one year project aims to look at cells from patients since at the present time it is unclear whether the same “malfunction” is present in human cells. If the mitochondrial “malfunction” is present in cells from individuals with BM or UCMD, Prof Bushby and her group can then begin to investigate whether cyclosporine might be a viable therapy for individuals with these conditions. Prof Bushby and her group will also be looking at cells affected by other types of muscular dystrophy in order to find out if the mitochondrial “malfunction”- is present in other types of muscular dystrophy or if this is confined to individuals or experimental models with specific collagen VI mutations.