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使用C6:0鞘磷脂底物提高酸性鞘磷脂酶活性测定的灵敏度。

Improved sensitivity of an acid sphingomyelinase activity assay using a C6:0 sphingomyelin substrate.

作者信息

Chuang Wei-Lien, Pacheco Joshua, Cooper Samantha, Kingsbury Jonathan S, Hinds John, Wolf Pavlina, Oliva Petra, Keutzer Joan, Cox Gerald F, Zhang Kate

机构信息

Genzyme Corporation, a Sanofi Company, One Mountain Road, Framingham, MA 01701-9322, USA.

Northeastern University, 360 Huntington Avenue, Boston, MA 02115, USA.

出版信息

Mol Genet Metab Rep. 2015 Apr 17;3:55-7. doi: 10.1016/j.ymgmr.2015.04.001. eCollection 2015 Jun.

DOI:10.1016/j.ymgmr.2015.04.001
PMID:26937397
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4750609/
Abstract

Short-chain C6-sphingomyelin is an artificial substrate that was used in an acid sphingomyelinase activity assay for a pilot screening study of patients with Niemann-Pick disease types A and B. Using previously published multiplex and single assay conditions, normal acid sphingomyelinase activity levels (i.e. false negative results) were observed in two sisters with Niemann-Pick B who were compound heterozygotes for two missense mutations, p.C92W and p.P184L, in the SMPD1 gene. Increasing the sodium taurocholate detergent concentration in the assay buffer lowered the activity levels of these two patients into the range observed with other patients with clear separation from normal controls.

摘要

短链C6-鞘磷脂是一种人工底物，用于酸性鞘磷脂酶活性测定，以对A型和B型尼曼-匹克病患者进行初步筛查研究。使用先前公布的多重和单一检测条件，在两名尼曼-匹克B型病姐妹中观察到正常的酸性鞘磷脂酶活性水平（即假阴性结果），她们是SMPD1基因中两个错义突变p.C92W和p.P184L的复合杂合子。增加测定缓冲液中牛磺胆酸钠去污剂的浓度，可将这两名患者的活性水平降低到与其他患者观察到的范围内，且与正常对照有明显区分。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c82/4750609/f41f1a8b94c4/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c82/4750609/f41f1a8b94c4/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c82/4750609/f41f1a8b94c4/gr1.jpg

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Mol Genet Metab. 2014 Feb;111(2):209-11. doi: 10.1016/j.ymgme.2013.11.012. Epub 2013 Dec 7.
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Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders.基于串联质谱的溶酶体贮积症 4+1 多重分析新生儿筛查：在五例溶酶体贮积症的小规模人群研究中的应用。
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Simplified newborn screening protocol for lysosomal storage disorders.
简化的溶酶体贮积症新生儿筛查方案。
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Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry.采用串联质谱法对干血斑进行多重酶分析以筛查溶酶体贮积症。
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Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders.通过串联质谱法对干血斑中的酶进行直接多重检测用于溶酶体贮积症的新生儿筛查。
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Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease.SMPD1基因座的印记：对酸性鞘磷脂酶缺乏型尼曼-匹克病的影响。
Am J Hum Genet. 2006 May;78(5):865-870. doi: 10.1086/503750. Epub 2006 Mar 14.
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Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials.A型尼曼-匹克病的自然史：治疗试验的可能终点
Neurology. 2006 Jan 24;66(2):228-32. doi: 10.1212/01.wnl.0000194208.08904.0c.
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