Ultrastructure and Enzymatic Deficiency of Fibroblast Cultures in Type II Glycogenosis

摘要

Extract: Fibroblast cultures from skin biopsy specimens of a girl with type II glycogenosis showed less than 5% of control activity of lysosomal acid α-glucosidase. These cells showed numerous intracellular vacuoles that resembled the abnormal lysosomes found in liver and other tissues of the patient. Their characteristic ultrastructural abnormality was seen in fibroblast and epithelial cells of the primary cultures and thereafter in all the subcultures of which to date eight passages have been examined. Control fibroblast cultures did not contain such inclusions.Speculation: Demonstration of the disease-specific ultrastructural abnormality indicates the usefulness of fibroblast cultures to study pathophysiology and potential treatment in type II glycogenosis. In addition, fibroblast cultures of other lysosomal diseases may serve a similar purpose.