We study etiology and pathogenesis of neuromuscular diseases. Many of these diseases affect skeletal muscle and cardiac muscle, causing muscle weakness and/or cardiomyopathy. We focus on diseases associated with impaired energy metabolism including mitochondrial and glycogen metabolism and diseases associated with defective structure and function of the contractile unit of muscle, the sarcomere and also inflammatory myopathies.
Mitochondrial diseases are caused by mitochondrial DNA (mtDNA) or nuclear gene mutations with impaired oxidative phosphorylation. One subgroup of these diseases is caused by nuclear gene mutations affecting the mitochondrial DNA maintenance with secondary mtDNA mutations or mtDNA deficiency. Glycogen disorders include diseases with glycogen storage or deficiency causing energy crisis in the muscle cells. Diseases of the sarcomere are a group of myopathies caused by mutations in genes encoding sarcomere proteins, which result in defective structure the muscle contractile apparatus. Inflammatory myopathies are disorders, in which destruction of the muscle tissue is caused by autoimmune mechanisms. In this context we are especially interested in one entity: inclusion body myositis.
Our research combines clinical investigations with morphologic, genetic, molecular-biological, and biochemical studies using biopsy specimens and cultured cells.
We have over many years collected a large and well-defined patient material, including muscle and heart biopsy specimens, which together with material from extensive international collaboration forms the basis for our studies on novel diseases and their pathogenesis. Our results will help to understand the basic mechanisms underlying these disorders, which is necessary for correct diagnosis, genetic counseling and treatment.