CNC-Center for Neuroscience and Cell Biology, University of Coimbra, polo I, 3004-504, Coimbra, Portugal.
IIIUC-Institute for Interdisciplinary Research, University of Coimbra, polo II, Coimbra, Portugal.
Adv Exp Med Biol. 2018;1049:59-83. doi: 10.1007/978-3-319-71779-1_3.
Mitochondrial dysfunction has been described as an early pathological mechanism delineating the selective neurodegeneration that occurs in Huntington's disease (HD), a polyglutamine-expansion disorder that largely affects the striatum and the cerebral cortex. Over the years, mitochondria roles in eukaryotic cells (e.g. in neurons) have largely diverged from the classically attributed cell power source; indeed, mitochondria not only contribute for synthesis of several metabolites, but are also dynamic organelles that fragment and fuse to achieve a maximal bioenergetic performance, are transported along microtubules, regulate intracellular calcium homeostasis through the interaction with the endoplasmic reticulum, produce free radicals and participate in cell death processes. Indeed, most of these activities have been demonstrated to be affected in HD, potentially contributing for the neuronal dysfunction in pre-symptomatic stages. This chapter resumes some of the evidences that pose mitochondria as a main regulatory organelle in HD-affected neurons, uncovering some potentially therapeutic mitochondrial-based relevant targets.
线粒体功能障碍被描述为亨廷顿病(HD)中选择性神经退行性变的早期病理机制,这是一种多聚谷氨酰胺扩展疾病,主要影响纹状体和大脑皮层。多年来,线粒体在真核细胞(例如神经元)中的作用已与经典的细胞能源来源大不相同;实际上,线粒体不仅有助于几种代谢物的合成,而且还是动态细胞器,可以通过分裂和融合来实现最佳的生物能量性能,沿着微管运输,通过与内质网的相互作用调节细胞内钙稳态,产生自由基并参与细胞死亡过程。实际上,已经证明大多数这些活动都受到 HD 的影响,这可能有助于在症状前阶段的神经元功能障碍。这一章总结了一些将线粒体作为受 HD 影响的神经元中的主要调节细胞器的证据,揭示了一些潜在的基于线粒体的相关治疗靶点。