Karkucinska-Wieckowska Agnieszka, Pronicki Maciej, Wieckowski Mariusz R
Department of Pathology, The Children's Memorial Health Institute, Warsaw, Poland.
Methods Mol Biol. 2015;1241:85-93. doi: 10.1007/978-1-4939-1875-1_8.
Investigation of mitochondrial metabolism perturbations and successful diagnosis of patients with mitochondrial abnormalities often requires assessment of human samples like muscle biopsy. Immunohistochemical and histochemical examination of muscle biopsy is an important technique to investigate mitochondrial dysfunction that combined with spectrophotometric and Blue Native electrophoresis techniques can be an important tool to provide diagnosis of mitochondrial disorders. In this chapter we focus on technical description of the methods that are suitable to detect the activity of complex I, II, and IV of mitochondrial respiratory chain in muscle biopsies. The protocols provided can be useful not only for general assessment of mitochondrial activity in studied material, but they are also successfully used in the diagnostic procedures in case of suspicion of mitochondrial disorders.
线粒体代谢紊乱的研究以及线粒体异常患者的成功诊断通常需要对人体样本进行评估，如肌肉活检。肌肉活检的免疫组织化学和组织化学检查是研究线粒体功能障碍的一项重要技术，与分光光度法和蓝色天然电泳技术相结合，可成为诊断线粒体疾病的重要工具。在本章中，我们重点介绍适用于检测肌肉活检中线粒体呼吸链复合体I、II和IV活性的方法的技术描述。所提供的方案不仅可用于对研究材料中线粒体活性的一般评估，而且在怀疑线粒体疾病的情况下，也成功应用于诊断程序。
