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Identification and Evaluation of Biomarkers for Niemann-Pick Disease Type C Based on Chemical Analysis Techniques

机译:基于化学分析技术的Niemann-Pick疾病C型生物标志物的鉴定与评价

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Niemann–Pick disease type C (NPC) is an autosomal recessive disorder that features progressive neurodegeneration. Because NPC patients have mutations in NPC1 or NPC2 cholesterol transporting proteins, failures in cholesterol and other lipid trafficking occur. NPC patients represent a wide clinical spectrum in terms of age of onset and type of symptoms. Because conventional diagnostic methods are time-consuming and complicated, biomarker tests have attracted increased attention. In this review, recently reported biomarkers for NPC are discussed in detail. For example, oxysterols and some cholenoic acid conjugates, metabolized from excess cholesterol in NPC cells, can be detected in urine or plasma. In addition, two types of lysosphingolipids, sphingosylphosphorylcholine and glycosylsphingosine, are present at increased concentrations in NPC patients. A more recently discovered biomarker is N -palmitoyl-O -phosphorylcholine, previously called “lysosphingomyelin-509.” These biomarkers are helpful for the early diagnosis of NPC and may contribute to a good prognosis for NPC patients.
机译:Niemann-Pick疾病C(NPC)是一种常染色体隐性疾病,具有渐进性神经变性。因为NPC患者在 NPC1或 NPC2胆固醇转运蛋白中具有突变,因此发生胆固醇的故障和其他脂质贩运。 NPC患者在发病年龄和症状的类型中代表着广泛的临床光谱。因为传统的诊断方法是耗时和复杂的,因为生物标志物测试引起了增加的关注。在本报告中,最近报告了NPC的生物标志物将详细讨论。例如,在尿液或血浆中,可以检测到NPC细胞中的过量胆固醇的氧气和一些胆烯酸缀合物。此外,两种类型的溶酶磷脂,鞘糖基磷磷胆碱和糖基骨苷苷在NPC患者的增加浓度下存在。最近发现的生物标志物是 n -palmitoyl- o -pholylcholine,以前称为“Lys osphingomyelin-509”。这些生物标志物有助于对NPC的早期诊断有所帮助,并且可能对NPC患者进行良好预后。

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