Krols Michiel, van Isterdael Gert, Asselbergh Bob, Kremer Anna, Lippens Saskia, Timmerman Vincent, Janssens Sophie
Peripheral Neuropathy Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.
VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium.
Acta Neuropathol. 2016 Apr;131(4):505-23. doi: 10.1007/s00401-015-1528-7. Epub 2016 Jan 7.
There is a growing appreciation that membrane-bound organelles in eukaryotic cells communicate directly with one another through direct membrane contact sites. Mitochondria-associated membranes are specialized subdomains of the endoplasmic reticulum that function as membrane contact sites between the endoplasmic reticulum and mitochondria. These sites have emerged as major players in lipid metabolism and calcium signaling. More recently also autophagy and mitochondrial dynamics have been found to be regulated at ER-mitochondria contact sites. Neurons critically depend on mitochondria-associated membranes as a means to exchange metabolites and signaling molecules between these organelles. This is underscored by the fact that genes affecting mitochondrial and endoplasmic reticulum homeostasis are clearly overrepresented in several hereditary neurodegenerative disorders. Conversely, the processes affected by the contact sites between the endoplasmic reticulum and mitochondria are widely implicated in neurodegeneration. This review will focus on the most recent data addressing the structural composition and function of the mitochondria-associated membranes. In addition, the 3D morphology of the contact sites as observed using volume electron microscopy is discussed. Finally, it will highlight the role of several key proteins associated with these contact sites that are involved not only in dementias, amyotrophic lateral sclerosis and Parkinson's disease, but also in axonopathies such as hereditary spastic paraplegia and Charcot-Marie-Tooth disease.
人们越来越认识到,真核细胞中的膜结合细胞器通过直接的膜接触位点相互直接通信。线粒体相关膜是内质网的特殊亚结构域,作为内质网和线粒体之间的膜接触位点发挥作用。这些位点已成为脂质代谢和钙信号传导的主要参与者。最近还发现自噬和线粒体动力学在内质网 - 线粒体接触位点受到调节。神经元严重依赖线粒体相关膜作为在这些细胞器之间交换代谢物和信号分子的手段。影响线粒体和内质网稳态的基因在几种遗传性神经退行性疾病中明显过度表达,这一事实突出了这一点。相反,内质网和线粒体之间的接触位点所影响的过程广泛涉及神经退行性变。本综述将重点关注有关线粒体相关膜的结构组成和功能的最新数据。此外,还讨论了使用体积电子显微镜观察到的接触位点的三维形态。最后,它将强调与这些接触位点相关的几种关键蛋白质的作用,这些蛋白质不仅参与痴呆症、肌萎缩侧索硬化症和帕金森病,还参与诸如遗传性痉挛性截瘫和夏科 - 马里 - 图斯病等轴索性疾病。