Pathological and molecular genetic studies on collagen VI deficient Ullrich's disease

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Patients with Ullrich's disease have generalized muscle weakness, multiple contractures of the proximal joints and hyperextensibility of the distal joints. Recently, we found a deficiency of collagen VI protein in skeletal muscle from two patients with Ullrich's disease.In this study, we performed electron microscopic and immunohistochemical investigations on biopsied skeletal muscles. We found electron microscopic abnormalities of skeletal muscle membrane and capillaries.Furthermore we found a marked reduction of fibronectin receptors in the extracellular matrix of skin and cultured fibroblasts of these patients and found that very small muscle fibers in the patients with Ullrich's disease showed poor expression of developmental myosin heavy chain and thrombomodulin.These findings suggest that abnormality of cell adhesion and abnormal regeneration or maturation processes are involved in the pathogenesis of dystrophic muscle changes at least in the advanced stage of Ullrich's disease.