Biochemical diagnosis of mitochondrial disorders.
Biochemical diagnosis of mitochondrial disorders.
复制标题
线粒体疾病的生化诊断。
DOI：
10.1007/s10545-010-9081-y
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发表时间：
2011-04
影响因子：
4.2
通讯作者：
Rodenburg, Richard J. T.
中科院分区：
文献类型：
--
作者：
Rodenburg, Richard J. T.
在疑似线粒体疾病的患者中建立诊断通常是一项挑战。线粒体疾病的临床谱的知识和确定的致病分子遗传缺陷的数量都在不断扩大。患者的诊断检查需要多学科的临床和实验室评估，其中线粒体功能状态的生化检查通常起着核心作用。在大多数情况下，肌肉活检提供了检查线粒体功能的最佳机会。除了个别氧化磷酸化酶的活性测量，线粒体呼吸，底物氧化和ATP生产率的分析进行，以获得线粒体能量产生系统的详细图片。根据临床、生化和其他实验室检测结果的汇编，选择候选基因进行分子遗传学检测。在鉴定出未知遗传变异的患者中，通常需要相容的生化表型来确定诊断。除了目前的作用，生化分析在诊断检查患者的疑似线粒体疾病，本报告给出了一个未来的角度来看，生化诊断的线粒体疾病的基因型和高通量分子遗传学诊断的可能性不断扩大。
Establishing a diagnosis in patients with a suspected mitochondrial disorder is often a challenge. Both knowledge of the clinical spectrum of mitochondrial disorders and the number of identified disease-causing molecular genetic defects are continuously expanding. The diagnostic examination of patients requires a multi-disciplinary clinical and laboratory evaluation in which the biochemical examination of the mitochondrial functional state often plays a central role. In most cases, a muscle biopsy provides the best opportunity to examine mitochondrial function. In addition to activity measurements of individual oxidative phosphorylation enzymes, analysis of mitochondrial respiration, substrate oxidation, and ATP production rates is performed to obtain a detailed picture of the mitochondrial energy-generating system. On the basis of the compilation of clinical, biochemical, and other laboratory test results, candidate genes are selected for molecular genetic testing. In patients in whom an unknown genetic variant is identified, a compatible biochemical phenotype is often required to firmly establish the diagnosis. In addition to the current role of the biochemical analysis in the diagnostic examination of patients with a suspected mitochondria disorder, this report gives a future perspective on the biochemical diagnosis in view of both the expanding genotypes of mitochondrial disorders and the possibilities for high throughput molecular genetic diagnosis.
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影响因子：
3.7
作者：
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通讯作者：
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