title: A C57BL/KsJ mouse model of Niemann-Pick disease (spm) belongs to the same complementation group as the major childhood type of Niemann-Pick disease type C.
abstract: A cell line (SPM-3T3) derived from a C57BL/KsJ mouse model of Niemann-Pick disease type C (NP-C) shows biochemical abnormalities similar to those in fibroblasts derived from NP-C. Somatic cell hybridization analysis of the SPM-3T3 cells and five fibroblast strains derived from NP-C patients (four childhood cases and one adult case) was carried out. The criterion for complementation was the restoration of a normal intracellular fluorescent pattern in multinucleated cells stained with filipin to demonstrate cholesterol accumulation. These cells can be assigned to two complementation groups. The SPM-3T3 cells did not complement cell strains derived from childhood-type NP-C, while they complemented a cell strain derived from an adult patient. Our results suggest that SPM-3T3 represents a genetically authentic model of a major complementation group of NP-C, and that NP-C consists of genetically heterogeneous groups.
authors.affiliation: Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Nishimachi, Yonago, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Akaboshi
authors.forename: T
authors.initials: T
authors.lastname: Yano
authors.forename: S
authors.initials: S
authors.lastname: Miyawaki
authors.forename: K
authors.initials: K
authors.lastname: Ohno
authors.forename: K
authors.initials: K
authors.lastname: Takeshita
mesh_terms: D016475:3T3 Cells; D000328:Adult; D000818:Animals; D002459:Cell Fusion; D002460:Cell Line; D002467:Cell Nucleus / Q000378:metabolism; D002648:Child; D002784:Cholesterol / Q000378:metabolism; D002788:Cholesterol Esters / Q000378:metabolism; D004195:Disease Models, Animal; D005260:Female; D005372:Filipin / Q000378:metabolism; D005816:Genetic Complementation Test; D006801:Humans; D008297:Male; D051379:Mice; D008810:Mice, Inbred C57BL; D009542:Niemann-Pick Diseases / Q000235:genetics*
chemical_list: D002788:Cholesterol Esters; D005372:Filipin; D002784:Cholesterol