尼曼-匹克 C 型病：分子机制与潜在治疗方法。
Niemann-Pick type C disease: molecular mechanisms and potential therapeutic approaches.
机构信息
Department of Biochemistry, Weill Cornell Medical College, New York, New York 10065, USA.
出版信息
J Neurochem. 2011 Mar;116(5):789-95. doi: 10.1111/j.1471-4159.2010.06976.x. Epub 2011 Jan 7.
Abstract
Cholesterol is an important lipid of mammalian cells. Its unique physicochemical properties modulate membrane behavior and it serves as the precursor for steroid hormones, oxysterols and vitamin D. Cholesterol is effluxed from the late endosomes/lysosomes via the concerted action of at least two distinct proteins: Niemann-Pick C (NPC)1 and NPC2. Mutations in these two proteins manifest as NPC disease - a very rare, usually fatal, autosomal, recessive, neurovisceral, lysosomal storage disorder. In this review, we discuss the possible mechanisms of action for NPC1 and NPC2 in mediating cholesterol efflux, as well as the different therapeutic approaches being pursued for the treatment of this lipid storage disorder.
摘要
胆固醇是哺乳动物细胞中的一种重要脂质。其独特的物理化学性质调节膜的行为，并作为甾体激素、氧化固醇和维生素 D 的前体。胆固醇通过至少两种不同蛋白的协同作用从晚期内体/溶酶体中流出：尼曼-匹克 C（NPC）1 和 NPC2。这两种蛋白的突变表现为 NPC 病——一种非常罕见的、通常致命的常染色体隐性、神经内脏、溶酶体贮积症。在这篇综述中，我们讨论了 NPC1 和 NPC2 在介导胆固醇流出过程中的可能作用机制，以及为治疗这种脂质贮积症而探索的不同治疗方法。
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