Multilevel heterogeneity of mitochondrial respiratory chain deficiency.
Multilevel heterogeneity of mitochondrial respiratory chain deficiency.
复制标题
线粒体呼吸链缺陷的多级异质性。
DOI：
10.1002/path.5146
复制
发表时间：
2018
期刊：
影响因子：
--
通讯作者：
Picard,Martin
中科院分区：
文献类型：
--
作者：
Vincent,AmyE;Picard,Martin
线粒体疾病是异质性多系统疾病，表现为线粒体呼吸链功能障碍的镶嵌模式。线粒体DNA（mtDNA）突变负荷在多个水平上是异质的：跨器官、细胞之间和亚细胞区室之间。这种异质性对诊断提出了挑战，但也为探索这些疾病发生和进展的生物学机制提供了科学机会。《病理学杂志》最近的一篇文章描述了一种新的组织化学技术--硝基蓝四唑排除试验（NBTx）--用于定量线粒体细胞色素氧化酶（考克斯，或复合物IV）缺乏。该技术快速、经济、定量，比以前的组织化学方法更敏感。它也可以应用于模型生物和人体组织。因此，NBTx方法应该是一个有用的诊断工具，并可能促进研究细胞和亚细胞机制，驱动遗传性和获得性mtDNA疾病的发病和进展。版权所有© 2018大不列颠及爱尔兰病理学会。出版社：John Wiley & Sons，Ltd
Mitochondrial diseases are heterogeneous multisystem disorders that show a mosaic pattern of mitochondrial respiratory chain dysfunction. The mitochondrial DNA (mtDNA) mutation load is heterogeneous at multiple levels: across organs, between cells, and between subcellular compartments. Such heterogeneity poses a diagnostic challenge, but also provides a scientific opportunity to explore the biological mechanisms underlying the onset and progression of these disorders. A recent article inThe Journal of Pathologydescribed a novel histochemical technique – nitro blue tetrazolium exclusion assay (NBTx) ‐ to quantify mitochondrial cytochromecoxidase (COX, or complex IV) deficiency. This technique is rapid, cost‐effective, and quantitative, and is more sensitive than previous histochemical methods. It can also be applied across model organisms and human tissues. The NBTx method should therefore be a useful diagnostic tool, and may catalyze research examining the cellular and subcellular mechanisms that drive the onset and progression of inherited and acquired mtDNA disorders. Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.