[A possible same genetic defect in two Niemann-Pick disease model mice].
[A possible same genetic defect in two Niemann-Pick disease model mice].
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[两只尼曼-皮克病模型小鼠可能存在相同的遗传缺陷]。
DOI：
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发表时间：
1994
期刊：
影响因子：
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通讯作者：
K. Maekawa
中科院分区：
文献类型：
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作者：
T. Yamamoto;K. Iwasawa;T. Tokoro;Y. Eto;K. Maekawa
我们发现了两种Niemann-Pick病模型小鼠，NCTR-BALB/c小鼠和SPM小鼠。NCTR-BALB/c小鼠被认为是C型尼曼-皮克病的模型小鼠，因为成纤维细胞中胆固醇酯化作用不足。另一方面，SPM小鼠一直被认为是Niemann-Pick病A型的模型，然而，我们发现SPM小鼠成纤维细胞的胆固醇酯化也是缺陷的。这表明两个模型小鼠可能是由相同的遗传缺陷引起的。为了验证这些小鼠的遗传缺陷是否位于同一基因，我们使NCTR-BALB/c小鼠杂合子与SPM小鼠杂合子交配。对F1小鼠进行了脂类分析、溶酶体酶活性测定、胆固醇酯化率测定和电子显微镜观察。在42只F1小鼠中有11只(25%)受到影响，临床感染的F1小鼠出现了与SPM和NCTR-BALB/c小鼠相同的生物学和形态异常。这些数据表明，NCTR-BALB/c小鼠和SPM小鼠的遗传缺陷位于同一基因。
We found two Niemann-Pick disease model mouse species, NCTR-BALB/c mouse and SPM mouse. NCTR-BALB/c mouse is known as a model mouse of Niemann-Pick disease type C, because cholesterol esterification is deficient in fibroblasts. On the other hand, SPM mouse has been thought as a model of Niemann-Pick disease type A. However, we disclosed cholesterol esterification in fibroblasts from SPM mice is also deficient. It indicates that two model mice could be caused by a same genetic deficiency. To test if the genetic defect of those mice are located in the same gene, we made NCTR-BALB/c mouse heterozygotes mate with SPM mouse heterozygotes. The F1 mice are investigated by lipid analysis, lysosomal enzyme assay, cholesterol esterification ratio, and electron microscopic study. Eleven in 42 F1 mice (25%) got affected, and the clinically affected F1 mice had the biological and morphological abnormalities which are seen in SPM and NCTR-BALB/c mice. These data suggest that genetic defects in NCTR-BALB/c and SPM mice are located in the same gene.