| First Author | Tokoro T | Year | 1991 |
| Journal | Am J Hum Genet | Volume | 49 |
| Issue | 4 Suppl | Pages | 107 (Abstr.) |
| Mgi Jnum | J:685 | Mgi Id | MGI:49220 |
| Citation | Tokoro T, et al. (1991) Impaired exogenous cholesterol esterification in Niemann-Pick mouse. Am J Hum Genet 49(4 Suppl):107 (Abstr.) |
| abstractText | Full text of Abstract: Biochemical Genetics: Characterization of Disorders. Impaired exogenous cholesterol esterification in Niemann-Pick mouse. T. Tokoro*(1) T. Yamamoto(1), K. Kusanno(1), S. Miyawaki(2), Y. Eto(1). (l)Department of Podiatrics, The Jikei Univ. School of Med., Tokyo, Japan and (2)zResearch Laboratory, Nippon Shinyaku Co., Ltd., Kyoto, Japan. The Niemann-Pick mouse is an autosomal recessive murine mutant, and recently introduced from a strain of C57BL/Ks. Clinically, this mutant mouse shows a progressive neurological manifestation with a marked hepatosplenomegaly and biochemically, shows accumulation of cholesterol and sphingomyeline associated with the significantly reduction of sphingomyolinase in visceral tissues. These findings might be equivalent to those of Niemann-Pick disease Type C in human. We investigated the cholesterol metabolism of this mutant mouse using cultured fibroblasts and mouse after loading 3H-oleic acid and 3H-cholesterol, respectively. The esterification of cholesterol in mutant mouse were significantly impaired. These findings indicated that this mutant mouse might be a mouse model of Niemann-Pick type C in human. Histochemical findings by Filipin staining and lipid analysis on subfractionation of liver tissues indicated that the accumulated cholestero1 were in the lysosomes. These findings strongly suggested that the impaired cholesterol transport on lysosomal membrane may be one of the important etiology of this NPD mouse. |
