Metachromatic form of diffuse cerebral sclerosis. V. The nature and significance of low sulfatase activity: a controlled study of brain, liver and kidney in four patients with metachromatic leukodystrophy (MLD).
Metachromatic form of diffuse cerebral sclerosis. V. The nature and significance of low sulfatase activity: a controlled study of brain, liver and kidney in four patients with metachromatic leukodystrophy (MLD).
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弥漫性脑硬化症的异染形式。
DOI：
10.1001/archneur.1965.00470060029003
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发表时间：
1965
影响因子：
--
通讯作者：
L. Shearer
中科院分区：
文献类型：
--
作者：
J. Austin;D. Armstrong;L. Shearer
前言：本系列先前的研究表明，异染性脑白质营养不良症(MLD)中硫脂的含量增加。1，10硫脂沉积不仅与中枢和外周神经系统的髓鞘破坏有关，而且在一些全身器官中也存在，特别是在肾脏和胆囊中。硫酸盐分子增多的一个原因可能是基因决定的某些硫酸酯酶的缺乏。我们最近的研究表明，在MLD.11、13-15中，硫酸酶活性较低。这一发现在一种“模型”脂肪堆积疾病中缺乏硫酸盐酶，这一发现加倍耐人寻味。它不仅增加了与MLD的硫脂脂变之间存在某种因果关系的可能性，而且也引起了人们对一些关键的、尽管棘手的生物医学问题的关注。这些问题涉及到基因调控、亚细胞定位以及水解酶系统更广泛的代谢作用。已审查的证据
Introduction PREVIOUS STUDIES in this series have shown that there is an increase in sulfatides in metachromatic leukodystrophy (MLD).1,10Sulfatide deposits occur not only in relation to the devastated myelin of the central and peripheral nervous system but also in some systemic organs, notably in the kidney and gallbladder. One reason for an increase in sulfated molecules might be a genetically-determined deficiency of certain sulfatase enzymes. Our recent studies have shown evidence of low sulfatase activities in MLD.11,13-15This finding of a sulfatase deficiency in a "model" lipid storage disease has been doubly intriguing. Not only does it raise the possibility of some cause and effect relationship with the sulfatide lipidosis of MLD, but it also serves to focus attention on some critical, if thorny, biomedical problems. These concern the genetic regulation, subcellular location, and the broader metabolic role of the hydrolytic enzyme systems in general. Evidence reviewed