Sulfatide storage in visceral organs of arylsulfatase A-deficient mice

The inherited deficiency of arylsulfatase A (ASA) in humans causes lysosoma l accumulation of sulfatides in visceral organs and in the nervous system a nd leads to wide-spread demyelination (metachromatic leukodystrophy, MLD). ASA-deficient mice have previously been generated by means of targeted gene disruption. In the present study, visceral organs of ASA-deficient mice we re investigated. A simple technique for the histochemical detection of accu mulated sulfatides was elaborated using pre-embedding staining with alcian blue. The gall bladder, intrahepatic bile ducts, exocrine pancreatic ducts. respiratory epithelium and, with low degree, testicular Sertoli cells, sho wed sulfolipid storage. The storage pattern in the kidney will be described in a separate publication. Hepatocytes, pancreatic islets, adrenal glands, and gastric epithelium were unaffected. Ultrastructurally, the intralysoso mal storage material displayed parallel and concentric lamellar patterns. A part from some differences. the topographic distribution of the sulfatide s torage resembled that in human MLD. In addition to being an animal model of the human disease, the ASA-deficient mouse may be useful for investigating the cell biology of sulfolipids in visceral organs.