Sphingomyelin in Fibroblasts from Patients Types of Niernann-Pick

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 after uptake from the media. The cell lines obtained from type A disease had more than 95° unhydrolyzed sphingomyelin in situ on day 3 while two cell lines obtained from type B had 36.3° and 43.3° unhydrolyzed sphingomyelin on day 3. The cell line derived from one patient with the transitory type disease had 48.1% unhydrolyzed sphingomyelin on day 3, and there was no significant difference in the sphingomyelinase activity measured in vitro or in degradation of sphingomyelin in situ between the type B and transitory type disease. In three cell lines from patients with type C disease, there was 18.5° , 29.6% and 31.1% unhydrolyzed sphingomyelin on day 3, which indicates that this type has a decreased ability to metabolize sphingomyelin. Cell from type E disease metabolized sphingomyelin normally. Niemann-Pick disease ; [choline-methyl-14C] sphingomyelin ; metabolism ; cultured skin fibroblasts