A cell line derived from sphingomyelinosis mouse shows alterations in intracellular cholesterol metabolism similar to those in type C Niemann-Pick disease.
Cell lines derived from the sphingomyelinosis (gene symbol, spm) mouse were established from homozygous (spm/spm) and heterozygous (spm/+) embryos according to a rigid 3T3 transfer schedule. The SPM-3T3 cells derived from a homozygous embryo showed extensive accumulation of intracellular cholesterol, attenuated esterification of exogenously added cholesterol and increased de novo cholesterol synthesis, when compared to SPMH-3T3 cells derived from a heterozygous embryo. The phenotypic abnormalities were very similar to those observed in fibroblasts from patients with Niemann-Pick disease type C (NP-C), in which a defect in the intracellular transport of unesterified cholesterol is suggested. The genetic defect in SPM-3T3 cells should be closely related to that in NP-C. The SPM-3T3 cell line is useful for biochemical and genetic studies on the regulation of intracellular cholesterol metabolism.
Ohno
K
K
Division of Child Neurology, Institute of Neurological Sciences, Tottori University School of Medicine, Yonago, Japan.
Nanba
E
E
Miyawaki
S
S
Sakiyama
T
T
Kitagawa
T
T
Takeshita
K
K
D016475:3T3 Cells / Q000378:metabolism; D000818:Animals; D001692:Biological Transport / Q000235:genetics; D002784:Cholesterol / Q000378:metabolism*; D004195:Disease Models, Animal; D005372:Filipin; D051379:Mice; D008818:Mice, Neurologic Mutants; D009542:Niemann-Pick Diseases / Q000378:metabolism* / Q000503:physiopathology
D005372:Filipin; D002784:Cholesterol