A LYSOSOMAL STORAGE DISORDER IN MICE CHARACTERIZED BY A DUAL DEFICIENCY OF SPHINGOMYELINASE AND GLUCOCEREBROSIDASE
A LYSOSOMAL STORAGE DISORDER IN MICE CHARACTERIZED BY A DUAL DEFICIENCY OF SPHINGOMYELINASE AND GLUCOCEREBROSIDASE
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DOI：
10.1016/0005-2760(80)90116-2
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发表时间：
1980-01-01
期刊：
影响因子：
--
通讯作者：
BRADY, RO
中科院分区：
文献类型：
--
作者：
PENTCHEV, PG;GAL, AE;BRADY, RO
Lipid and lysosomal enzyme levels in the tissues of a strain of mice afflicted with an autosomal recessive neuroviscereal storage disorder were examined. Sphingomyelinase and glucocerebrosidase activities were consistently diminished in a wide variety of tissues obtained from the affected mice. The activities of these enzymes were clearly attenuated in new-born mice, which at this age, were otherwise indistinguishable from littermates and age-matched controls. The deficiency of sphingomyelinase was more pronounced than glucocerebrosidase. There was progressive accumulation of sphingomyelin, glucocerebroside, lactosylceramide and unesterified cholesterol in the tissues of these mice in the postnatal period. Gangliosides GM2 and GM3 accumulated in the brain of the animals, and GM3 and asialo-GM2 were stored in the liver. There was a large increase in the quantity of hepatic bis(monoacylglycero)phosphate. The accumulation of lipids was paralleled by a progressive elevation in the activity of several lysosomal hydrolases in various tissues. Heterozygous mice were biochemically indistinguishable from normal controls. The phenotypic manifestations in these metabolically mutated animals are compared with those in Niemann-Pick disease and Gaucher''s disease in humans.
