Medical University of Vienna, Department of Medical Chemistry, Waehringerstr. 10, 1090 Vienna, Austria.
Anal Chim Acta. 2010 Feb 5;659(1-2):129-32. doi: 10.1016/j.aca.2009.11.036. Epub 2009 Nov 27.
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease affecting 1 in 50,000 people and is caused by a GAA-trinucleotide expansion in the frataxin gene located on chromosome locus 9q13 which results in a markedly reduced expression of frataxin, a small mitochondrial protein. The exact function of frataxin is still unknown and currently there is no approved treatment available. In the near future there will be a high demand for measuring frataxin protein levels due to the development of therapeutic strategies for FRDA based on manipulating frataxin expression levels in vivo. In this paper we describe the development of an electrochemiluminescence assay (ECLIA) to measure frataxin protein levels in a 96-well plate format. The ECLIA for frataxin is able to measure human and mouse samples and is highly quantitative, accurate and reproducible, with low intra- and inter-assay error throughout a wide working range. The assay has an excellent precision and provides a new tool for the set up of high-throughput screening for basic research and for clinical studies with FRDA patients.
弗里德赖希共济失调（FRDA）是一种常染色体隐性神经退行性疾病，影响每 50,000 人中的 1 人，由位于 9q13 染色体基因座的 frataxin 基因中的 GAA-三核苷酸扩展引起，导致 frataxin 的表达明显减少，frataxin 是一种小型线粒体蛋白。frataxin 的确切功能仍不清楚，目前尚无批准的治疗方法。由于基于体内操纵 frataxin 表达水平的 FRDA 治疗策略的发展，未来将对测量 frataxin 蛋白水平有很高的需求。在本文中，我们描述了开发一种用于在 96 孔板格式中测量 frataxin 蛋白水平的电化学发光测定法（ECLIA）。用于 frataxin 的 ECLIA 能够测量人和小鼠样本，具有高度定量、准确和可重复性，在广泛的工作范围内具有低的内和间分析误差。该测定法具有出色的精密度，为 FRDA 患者的基础研究和临床研究中的高通量筛选提供了新工具。
