Morphologic and biochemical abnormalities of kidney lysosomes in mice with an inherited albinism.

摘要: The light-ear mutation in the mouse may serve as a useful model for human inherited oculocutaneous albinisms such Hermansky-Pudlak and Chediak-Higashi syndromes. authors have investigated kidney lysosomes of le/le mutant mice by histochemical methods. A striking increase staining reaction lysosomal enzymes beta-galactosidase acid-phosphatase was evident cortex mice, comparison with +/+ controls. protease, cathepsin C, is also found to be elevated mutant. By light microscopy, there appeared an number kidney. Electron microscopy revealed presence large, multilamellar granules proximal tubule cells. Analysis sedimentation through sucrose gradients demonstrated low-density population In addition, accumulation ceroidlike pigment observed. molecular lesions responsible melanolysosomal syndromes man are still unidentified.