Kojic Marija, Wainwright Brandon
Genomics of Development and Disease Division, Institute for Molecular Bioscience, The University of Queensland Brisbane, QLD, Australia.
Front Mol Neurosci. 2016 Nov 1;9:115. doi: 10.3389/fnmol.2016.00115. eCollection 2016.
Development of the nervous system requires a variety of cellular activities, such as proliferation, migration, axonal outgrowth and guidance and synapse formation during the differentiation of neural precursors into mature neurons. Malfunction of these highly regulated and coordinated events results in various neurological diseases. The Elongator complex is a multi-subunit complex highly conserved in eukaryotes whose function has been implicated in the majority of cellular activities underlying neurodevelopment. These activities include cell motility, actin cytoskeleton organization, exocytosis, polarized secretion, intracellular trafficking and the maintenance of neural function. Several studies have associated mutations in Elongator subunits with the neurological disorders familial dysautonomia (FD), intellectual disability (ID), amyotrophic lateral sclerosis (ALS) and rolandic epilepsy (RE). Here, we review the various cellular activities assigned to this complex and discuss the implications for neural development and disease. Further research in this area has the potential to generate new diagnostic tools, better prevention strategies and more effective treatment options for a wide variety of neurological disorders.
神经系统的发育需要多种细胞活动，例如在神经前体细胞分化为成熟神经元的过程中发生的增殖、迁移、轴突生长与导向以及突触形成。这些高度调控且协调的过程出现功能障碍会导致各种神经疾病。延伸体复合物是一种在真核生物中高度保守的多亚基复合物，其功能与神经发育所涉及的大多数细胞活动有关。这些活动包括细胞运动、肌动蛋白细胞骨架组织、胞吐作用、极化分泌、细胞内运输以及神经功能的维持。多项研究已将延伸体亚基的突变与神经疾病家族性自主神经功能障碍（FD）、智力残疾（ID）、肌萎缩侧索硬化症（ALS）和罗兰多癫痫（RE）联系起来。在此，我们综述了归因于该复合物的各种细胞活动，并讨论其对神经发育和疾病的影响。该领域的进一步研究有可能为多种神经疾病开发出新的诊断工具、更好的预防策略和更有效的治疗方案。
