Translational Vascular Medicine Branch National Institutes of Health, Bethesda, MD.
Cardiovascular Branch National Heart, Lung, and Blood Institute National Institutes of Health, Bethesda, MD.
J Lipid Res. 2019 May;60(5):1050-1057. doi: 10.1194/jlr.D090233. Epub 2019 Feb 26.
Familial LCAT deficiency (FLD) patients accumulate lipoprotein-X (LP-X), an abnormal nephrotoxic lipoprotein enriched in free cholesterol (FC). The low neutral lipid content of LP-X limits the ability to detect it after separation by lipoprotein electrophoresis and staining with Sudan Black or other neutral lipid stains. A sensitive and accurate method for quantitating LP-X would be useful to examine the relationship between plasma LP-X and renal disease progression in FLD patients and could also serve as a biomarker for monitoring recombinant human LCAT (rhLCAT) therapy. Plasma lipoproteins were separated by agarose gel electrophoresis and cathodal migrating bands corresponding to LP-X were quantified after staining with filipin, which fluoresces with FC, but not with neutral lipids. rhLCAT was incubated with FLD plasma and lipoproteins and LP-X changes were analyzed by agarose gel electrophoresis. Filipin detects synthetic LP-X quantitatively (linearity 20-200 mg/dl FC; coefficient of variation <20%) and sensitively (lower limit of quantitation <1 mg/ml FC), enabling LP-X detection in FLD, cholestatic, and even fish-eye disease patients. rhLCAT incubation with FLD plasma ex vivo reduced LP-X dose dependently, generated HDL, and decreased lipoprotein FC content. Filipin staining after agarose gel electrophoresis sensitively detects LP-X in human plasma and accurately quantifies LP-X reduction after rhLCAT incubation ex vivo.
家族性 LCAT 缺乏症(FLD)患者会积累脂蛋白-X(LP-X),这是一种富含游离胆固醇(FC)的异常肾毒性脂蛋白。LP-X 的低中性脂质含量限制了其在脂蛋白电泳分离后用苏丹黑或其他中性脂质染色剂进行检测的能力。定量检测 LP-X 的灵敏而准确的方法将有助于研究 FLD 患者血浆 LP-X 与肾脏疾病进展之间的关系,也可以作为监测重组人 LCAT(rhLCAT)治疗的生物标志物。用琼脂糖凝胶电泳分离血浆脂蛋白,并用 filipin 染色后定量检测对应的 LP-X 区带,filipin 可与 FC 荧光反应,但不能与中性脂质反应。rhLCAT 与 FLD 血浆和脂蛋白孵育,通过琼脂糖凝胶电泳分析 LP-X 的变化。Filipin 可定量检测合成的 LP-X(线性范围 20-200mg/dl FC;变异系数<20%)和灵敏检测(定量下限<1mg/ml FC),可用于检测 FLD、胆汁淤积甚至鱼眼病患者的 LP-X。rhLCAT 体外孵育 FLD 血浆可剂量依赖性地降低 LP-X,生成高密度脂蛋白,并降低脂蛋白 FC 含量。琼脂糖凝胶电泳后 filipin 染色可灵敏地检测人血浆中的 LP-X,并准确定量 rhLCAT 体外孵育后 LP-X 的减少。