Abdul-Hammed Misbaudeen, Breiden Bernadette, Schwarzmann Günter, Sandhoff Konrad
Life and Medical Sciences (LIMES) Institut, Membrane Biology and Lipid Biochemistry Unit, Kekulé-Institut für Organische Chemie und Biochemie, Universität Bonn, Bonn, Germany.
Biophysical Chemistry Group, Department of Pure and Applied Chemistry, Ladoke Akintola University of Technology, Ogbomoso, Nigeria.
J Lipid Res. 2017 Mar;58(3):563-577. doi: 10.1194/jlr.M073510. Epub 2017 Jan 26.
Glucosylceramide (GlcCer) is the primary storage lipid in the lysosomes of Gaucher patients and a secondary one in Niemann-Pick disease types A, B, and C. The regulatory roles of lipids on the hydrolysis of membrane bound GlcCer by lysosomal β-glucocerebrosidase (GBA1) was probed using a detergent-free liposomal assay. The degradation rarely occurs at uncharged liposomal surfaces in the absence of saposin (Sap) C. However, anionic lipids stimulate GlcCer hydrolysis at low pH by up to 1,000-fold depending on the nature and position of the negative charges in their head groups while cationic lipids inhibit the degradation, thus showing the importance of electrostatic interactions between the polycationic GBA1 and the negatively charged vesicle surfaces at low pH. Ceramide, fatty acids, monoacylglycerol, and diacylglycerol also stimulate GlcCer hydrolysis while SM, sphingosine, and sphinganine play strong inhibitory roles, thereby explaining the secondary storage of GlcCer in Niemann-Pick diseases. Surprisingly, cholesterol stimulates GlcCer degradation in the presence of bis(monoacylglycero)phosphate (BMP). Sap C strongly stimulates GlcCer hydrolysis even in the absence of BMP and the regulatory roles of the intraendolysosomal lipids on its activity is discussed. Our data suggest that these strong modifiers of GlcCer hydrolysis affect the genotype-phenotype correlation in several cases of Gaucher patients independent of the types.
葡糖神经酰胺(GlcCer)是戈谢病患者溶酶体中的主要储存脂质,在A型、B型和C型尼曼-匹克病中则是次要储存脂质。利用无去污剂脂质体测定法探究了脂质对溶酶体β-葡萄糖脑苷脂酶(GBA1)水解膜结合型GlcCer的调节作用。在没有鞘磷脂(Sap)C的情况下,降解很少发生在不带电荷的脂质体表面。然而,阴离子脂质在低pH值下可将GlcCer水解刺激高达1000倍,这取决于其头部基团中负电荷的性质和位置,而阳离子脂质则抑制降解,从而表明在低pH值下多阳离子GBA1与带负电荷的囊泡表面之间静电相互作用的重要性。神经酰胺、脂肪酸、单酰甘油和二酰甘油也刺激GlcCer水解,而鞘磷脂、鞘氨醇和二氢鞘氨醇则起强烈的抑制作用,从而解释了GlcCer在尼曼-匹克病中的次要储存情况。令人惊讶的是,在存在双(单酰甘油)磷酸酯(BMP)的情况下,胆固醇刺激GlcCer降解。即使在没有BMP的情况下,Sap C也能强烈刺激GlcCer水解,并讨论了内溶酶体脂质对其活性的调节作用。我们的数据表明,这些GlcCer水解的强调节剂在几种戈谢病患者中影响基因型-表型相关性,且与类型无关。