Familial lipodystrophic conditions, such as Gaucher's, Niemann-Pick, and Tay-Sachs disease, are characterized by the intracellular accumulation of abnormally large quantities of sphingolipids. In Gaucher's disease, the offending lipids are cerebrosides, while Niemann-Pick and Tay-Sachs diseases are characterized by the accumulation of sphingomyelin and gangliosides, respectively. In Gaucher's a...

Mycobacteria have been modified to transform sterols to produce valuable steroids. Here, we demonstrated that the oxidation of sterols to sterones is a rate-limiting step in the catabolic pathway of sterols in Mycobacterium neoaurum. Two cholesterol oxidases ChoM1 and ChoM2 involved in the step were identified in M. neoaurum and the ChoM2 shared up to 45% identity with other cholesterol oxidase...

The venoms of Loxosceles spiders cause severe dermonecrotic lesions in human tissues. The venom component sphingomyelinase D (SMD) is a contributor to lesion formation and is unknown elsewhere in the animal kingdom. This study reports comparative analyses of SMD activity and venom composition of select Loxosceles species and representatives of closely related Haplogyne genera. The goal was to i...

NAKASHIMA, M., KUDOH, T., SUKEGAWA, .K., MARUYAMA, K. and ORII, T. Metabolism of Sphingomyelin in Cultured Skin Fibroblasts from Patients with Different Types of Niemann-Pick Disease. Tohoku J. exp. Med., 1986, 148 (4), 365-371 The metabolism of [choline-methyl-14C] sphingomyelin in cultured skin fibroblasts from patients with different types of Niemann-Pick disease was measured 1 and 3 days af...

Lysosomal storage disorders (LSD) are characterized by the accumulation of diverse lipid species in lysosomes. Niemann-Pick type A/B (NPA/B) and type C diseases Niemann-Pick type C (NPC) are progressive LSD caused by loss of function of distinct lysosomal-residing proteins, acid sphingomyelinase and NPC1, respectively. While the primary cause of these diseases differs, both share common biochem...

Mutations in the Niemann-Pick disease genes cause lysosomal cholesterol accumulation and impaired low density lipoprotein (LDL) cholesterol esterification. These findings have been attributed to a block in cholesterol movement from lysosomes to the site of the sterol regulatory machinery. In this study we show that Niemann-Pick type C1 (NPC1) and Niemann-Pick type C2 (NPC2) mutants have increas...