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毛细管 Western 免疫分析(Wes)在定量健康对照者和贝克型和杜氏肌营养不良症个体骨骼肌中的抗肌萎缩蛋白水平中的应用。

Use of capillary Western immunoassay (Wes) for quantification of dystrophin levels in skeletal muscle of healthy controls and individuals with Becker and Duchenne muscular dystrophy.

机构信息

BioMarin Nederland BV, Leiden, The Netherlands.

出版信息

PLoS One. 2018 Apr 11;13(4):e0195850. doi: 10.1371/journal.pone.0195850. eCollection 2018.

Abstract

Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by progressive weakness of the skeletal and cardiac muscles. This X-linked disorder is caused by open reading frame disrupting mutations in the DMD gene, resulting in strong reduction or complete absence of dystrophin protein. In order to use dystrophin as a supportive or even surrogate biomarker in clinical studies on investigational drugs aiming at correcting the primary cause of the disease, the ability to reliably quantify dystrophin expression in muscle biopsies of DMD patients pre- and post-treatment is essential. Here we demonstrate the application of the ProteinSimple capillary immunoassay (Wes) method, a gel- and blot-free method requiring less sample, antibody and time to run than conventional Western blot assay. We optimized dystrophin quantification by Wes using 2 different antibodies and found it to be highly sensitive, reproducible and quantitative over a large dynamic range. Using a healthy control muscle sample as a reference and α-actinin as a protein loading/muscle content control, a panel of skeletal muscle samples consisting of 31 healthy controls, 25 Becker Muscle dystrophy (BMD) and 17 DMD samples was subjected to Wes analysis. In healthy controls dystrophin levels varied 3 to 5-fold between the highest and lowest muscle samples, with the reference sample representing the average of all 31 samples. In BMD muscle samples dystrophin levels ranged from 10% to 90%, with an average of 33% of the healthy muscle average, while for the DMD samples the average dystrophin level was 1.3%, ranging from 0.7% to 7% of the healthy muscle average. In conclusion, Wes is a suitable, efficient and reliable method for quantification of dystrophin expression as a biomarker in DMD clinical drug development.

摘要

杜氏肌营养不良症(DMD)是一种以骨骼肌和心肌进行性无力为特征的神经肌肉疾病。这种 X 连锁疾病是由 DMD 基因突变引起的,这些突变导致肌营养不良蛋白的大量减少或完全缺失。为了在旨在纠正疾病根本原因的研究药物的临床研究中使用肌营养不良蛋白作为支持性甚至替代生物标志物,在 DMD 患者治疗前后的肌肉活检中可靠地定量肌营养不良蛋白表达的能力是必不可少的。在这里,我们展示了 ProteinSimple 毛细管免疫分析(Wes)方法的应用,这是一种凝胶和印迹免费的方法,与传统的 Western blot 分析相比,需要更少的样本、抗体和时间来运行。我们使用 2 种不同的抗体优化了 Wes 中肌营养不良蛋白的定量,发现它具有高度的灵敏度、重现性和在大动态范围内的定量能力。使用健康对照肌肉样本作为参考,以肌动蛋白作为蛋白加载/肌肉含量对照,我们对包含 31 个健康对照、25 个贝克肌营养不良(BMD)和 17 个 DMD 样本的骨骼肌样本进行了 Wes 分析。在健康对照中,肌营养不良蛋白水平在最高和最低肌肉样本之间变化 3 到 5 倍,参考样本代表所有 31 个样本的平均值。在 BMD 肌肉样本中,肌营养不良蛋白水平从 10%到 90%不等,平均为健康肌肉平均值的 33%,而对于 DMD 样本,平均肌营养不良蛋白水平为 1.3%,范围为健康肌肉平均值的 0.7%至 7%。总之,Wes 是一种适合、高效和可靠的方法,可用于定量 DMD 临床药物开发中的肌营养不良蛋白表达作为生物标志物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fd19/5895072/3a53ad1268a3/pone.0195850.g001.jpg

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