Neuropathological features of mitochondrial disorders.
Neuropathological features of mitochondrial disorders.
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线粒体疾病的神经病理学特征。
DOI：
10.1006/scdb.2001.0280
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发表时间：
2001
期刊：
影响因子：
--
通讯作者：
Bonilla,E
中科院分区：
文献类型：
--
作者：
Tanji,K;Kunimatsu,T;Vu,TH;Bonilla,E
影响线粒体呼吸链的基因缺陷是脑肌病的重要原因。考虑到呼吸链的结构复杂性，其双重基因控制，以及适当组装酶复合体所需的众多核基因，表型异质性并不令人惊讶。从神经病理学的角度，应用原位杂交和免疫组织化学方法研究线粒体脑病“原型”中的脉络丛和脑-血屏障，揭示了我们认为在这些疾病的中枢神经系统功能障碍的发病机制中重要的变化。随着血-脑脊液(CSF)和脑-血屏障在线粒体脑病中的作用得到更好的理解，对其功能的操纵为治疗干预提供了希望。
Genetic defects affecting the mitochondrial respiratory chain comprise an important cause of encephalomyopathies. Considering the structural complexity of the respiratory chain, its dual genetic control, and the numerous nuclear genes required for proper assembly of the enzyme complexes, the phenotypic heterogeneity is not surprising. From a neuropathological view point, application of in situ hybridization and immunohistochemistry to study the choroid plexus and brain–blood barrier in ‘prototypes’ of mitochondrial encephalopathies have revealed alterations that we think are important in the pathogenesis of central nervous system dysfunction in these disorders. As the role of the blood–cerebrospinal fluid (CSF) and brain–blood barriers in mitochondrial encephalopathies is better understood, manipulation of their functions offers promises for therapeutic interventions.