Metabolism of sphingomyelin in cultured skin fibroblasts from patients with different types of Niemann-Pick disease.
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.
D002478:Cells, Cultured; D005347:Fibroblasts / Q000201:enzymology / Q000378:metabolism; D006596:Hexosaminidases / Q000378:metabolism; D006801:Humans; D009542:Niemann-Pick Diseases / Q000201:enzymology / Q000378:metabolism*; D012867:Skin / Q000201:enzymology / Q000378:metabolism*; D013108:Sphingomyelin Phosphodiesterase / Q000378:metabolism; D013109:Sphingomyelins / Q000378:metabolism*
D013109:Sphingomyelins; D013108:Sphingomyelin Phosphodiesterase; D006596:Hexosaminidases