Mitochondrial Respiratory Chain: Biochemical Analysis and Criterion for Deficiency in Diagnosis
Mitochondrial Respiratory Chain: Biochemical Analysis and Criterion for Deficiency in Diagnosis
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DOI：
10.1007/978-1-61779-504-6_6
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发表时间：
2012-01-01
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影响因子：
--
通讯作者：
Grazina, Manuela M.
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文献类型：
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作者：
Grazina, Manuela M.
线粒体呼吸链 (MRC) 酶复合物的分光光度评估是氧化磷酸化疾病（也称为线粒体细胞病）生化研究和诊断的主要方法。可以使用常规双光束分光光度计，但我们描述了双波长设备的协议，允许以高灵敏度分析少量组织的复杂活动。一个重要的问题是应该选择哪些组织进行分析。因此，我们提出了用不同组织获得的结果和要使用的对照值。没有可用于测定的标准，也没有实施实验室间质量控制方案。此外，不同的实验室可能使用不同的方案，结果的比较可能很困难。目前，文献中对于定义用于生化诊断的 M RC 缺陷的标准尚未达成共识。有统计证据表明，定义 M RC 缺陷的最充分标准是低于标准化为柠檬酸合酶活性的平均对照值的 40%。
Spectrophotometric evaluation of mitochondrial respiratory chain (MRC) enzymatic complexes is the main approach to the biochemical investigation and diagnosis in oxidative phosphorylation disorders (also known as mitochondrial cytopathies). Regular dual beam spectrophotometers may be used, but we describe the protocols for double wavelength devices, allowing the analysis of complex activities from a small amount of tissue, with high sensitivity. An important concern is which tissue should be selected for analysis. Accordingly, we present the results obtained with different tissues and control values to be used. There are no standards available for the determinations and no interlaboratory quality control schemes are implemented. Additionally, different laboratories may use different protocols and comparison of results may be difficult. Currently, there is no consensus in literature for defining a criterion of an M RC deficiency to be used in biochemical diagnosis. There is statistical evidence that the most adequate criterion to define an M RC deficiency is below 40% of the mean control value normalized to citrate synthase activity.