Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides
Multisystem triglyceride storage disease is due to a specific defect in the degradation of endocellularly synthesized triglycerides
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多系统甘油三酯贮积病是由于细胞内合成的甘油三酯降解的特定缺陷所致
DOI：
10.1212/wnl.38.7.1107
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发表时间：
1988
期刊：
影响因子：
9.9
通讯作者：
Generoso Andria
中科院分区：
文献类型：
--
作者：
S. Donato;B. Garavaglia;P. Strisciuglio;C. Borrone;Generoso Andria
我们研究了两例不相关的常染色体隐性多系统甘油三酯储存病患者。在甘油或棕榈酸喂养下，培养成纤维细胞积累的甘油三酯比对照组多10倍。突变型成纤维细胞不能降解积累的内源性甘油三酯，但通常降解内源性合成的磷脂。当细胞被喂食外源性油素时，甘油三酯的分解代谢在正常范围内。细胞提取物中长链、中链和短链脂肪酸氧化正常，酸性、中性和碱性脂肪酶活性正常。这种疾病似乎是由于内源性合成的甘油三酯降解的特定损害。
We studied two unrelated patients with autosomal recessive multisystem triglyceride storage disease. Cultured fibroblasts accumulated 10 times more triglyceride than controls under glycerol or palmitate feeding. Mutant fibroblasts could not degrade accumulated triglycerides of endogenous origin, but normally degraded endogenously synthesized phospholipids. When the cells were fed with exogenous olein, triglyceride catabolism was in the normal range. Oxidation of long-chain, medium-chain, and short-chain fatty acids was normal, and the activities of acidic, neutral, and alkaline lipase in cell extracts were normal. The disease seems to be due to a specific impairment in the degradation of triglycerides synthesized endogenously.
培养的人皮肤成纤维细胞的三酰甘油代谢和三酰甘油脂肪酶活性。
DOI：
10.1016/0005-2760(80)90070-3
发表时间：
1980
期刊：
Biochimica et biophysica acta
影响因子：
--
作者：
Oram,JF;Shafrir,E;Bierman,EL
通讯作者：
Bierman,EL