Suppr超能文献

NPC1 缺陷神经元中的胆固醇积累是神经节苷脂依赖性的。

Cholesterol accumulation in NPC1-deficient neurons is ganglioside dependent.

作者信息

Gondré-Lewis Marjorie C, McGlynn Robert, Walkley Steven U

机构信息

Sidney Weisner Laboratory of Genetic Neurological Disease, Department of Neuroscience, Rose F. Kennedy Center for Research in Mental Retardation and Human Development, Albert Einstein College of Medicine, Bronx, NY 10461, USA.

出版信息

Curr Biol. 2003 Aug 5;13(15):1324-9. doi: 10.1016/s0960-9822(03)00531-1.

Abstract

Niemann-Pick type C (NPC) disease is a lysosomal disorder commonly caused by a recessive mutation in NPC1, which encodes an integral membrane protein with regions of homology to the morphogen receptor, Patched, and to 3-hydroxy-3-methylglutaryl coenzyme A reductase. Neurons in NPC disease exhibit extensive storage of free cholesterol and glycosphingolipids (GSLs), including GM2 and GM3 gangliosides. Most studies have viewed cholesterol storage as primary, with NPC1 functioning as a retroendocytic transporter for regulation of cholesterol homeostasis. Here, we analyze the effects of genetically depriving NPC neurons of complex gangliosides by creating mice doubly deficient in both NPC1 and the GSL synthetic enzyme, GM2/GD2 synthase (GalNAcT). Ganglioside and cholesterol expression in neurons of NPC1(-/-)/GalNAcT(+/+), NPC1(-/-)/GalNAcT(-/-), NPC1(+/+)/GalNAcT(-/-), and WT mice was examined in situ by immunocytochemical and histochemical methods. Neurons in double-deficient mice lacked intraneuronal GM2 accumulation as expected, but remarkably also exhibited absence or dramatic reduction in free cholesterol. Neurons storing cholesterol consistently showed GM3 accumulation but some GM3-positive neurons lacked cholesterol storage. These findings provide a compelling argument that cholesterol sequestration in NPC1-deficient neurons is ganglioside dependent and suggest that the function of NPC1 in these cells may be more closely linked to homeostatic control of GSLs than cholesterol.

摘要

尼曼-匹克C型(NPC)病是一种溶酶体疾病,通常由NPC1基因的隐性突变引起,该基因编码一种整合膜蛋白,其区域与形态发生素受体Patched以及3-羟基-3-甲基戊二酰辅酶A还原酶具有同源性。NPC病中的神经元表现出游离胆固醇和糖鞘脂(GSLs)的大量蓄积,包括GM2和GM3神经节苷脂。大多数研究认为胆固醇蓄积是主要的,NPC1作为一种逆向内吞转运体发挥作用,调节胆固醇稳态。在此,我们通过创建同时缺乏NPC1和GSL合成酶GM2/GD2合酶(GalNAcT)的双缺陷小鼠,分析了基因敲除NPC神经元中复合神经节苷脂的影响。通过免疫细胞化学和组织化学方法原位检测了NPC1(-/-)/GalNAcT(+/+)、NPC1(-/-)/GalNAcT(-/-)、NPC1(+/+)/GalNAcT(-/-)和野生型小鼠神经元中的神经节苷脂和胆固醇表达。如预期的那样,双缺陷小鼠的神经元缺乏神经元内GM2蓄积,但显著的是,游离胆固醇也缺失或显著减少。蓄积胆固醇的神经元始终显示GM3蓄积,但一些GM3阳性神经元缺乏胆固醇蓄积。这些发现提供了一个令人信服的证据,即NPC1缺陷神经元中的胆固醇隔离是神经节苷脂依赖性的,并表明NPC1在这些细胞中的功能可能与GSLs的稳态控制比与胆固醇的关系更为密切。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验