MOLECULAR BASES OF LIMB-GIRDLE MUSCULAR DYSTROPHIES

The diagnosis of a muscular dystrophy in a boy is often a tragic experience for his parents. They immediately think to a future of problems since they know that their son will lose the ability to do things like walk, sit upright, breathe easily, and move their arms and hands. The increasing weakness will lead to other serious complications and a shortened life span. This is the description of Duchenne muscular dystrophy, but there are many other different forms of muscular dystrophy that can be inherited by both sexes. The research of the last few years has identified a broader group of at least fifteen different genetic diseases of the muscle of the legs and arms, called limb-girdle muscular dystrophies. All these patients have normal intelligence and part of them have minor physical disabilities until late in life, allowing them to have fairly normal life spans and activity levels. In spite of the rapid progress of genetics, there are many patients for which the cause of disease is yet unknown. Our project is aimed to discover new genes that cause the disease in such patients and to understand the general mechanisms that lead to muscle damage.