Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, University of Milan, Milan, Italy..
Department of Pathophysiology and Transplantation (DEPT), Dino Ferrari Centre, Neuroscience Section, University of Milan, Milan, Italy.
Neurobiol Dis. 2020 Jul;140:104870. doi: 10.1016/j.nbd.2020.104870. Epub 2020 Apr 12.
Spinal muscular atrophy (SMA) is a severe, inherited disease characterized by the progressive degeneration and death of motor neurons of the anterior horns of the spinal cord, which results in muscular atrophy and weakness of variable severity. Its early-onset form is invariably fatal in early childhood, while milder forms lead to permanent disability, physical deformities and respiratory complications. Recently, two novel revolutionary therapies, antisense oligonucleotides and gene therapy, have been approved, and might prove successful in making long-term survival of these patients likely. In this perspective, a deep understanding of the pathogenic mechanisms and of their impact on the interactions between motor neurons and other cell types within the central nervous system (CNS) is crucial. Studies using SMA animal and cellular models have taught us that the survival and functionality of motor neurons is highly dependent on a whole range of other cell types, namely glial cells, which are responsible for a variety of different functions, such as neuronal trophic support, synaptic remodeling, and immune surveillance. Thus, it emerges that SMA is likely a non-cell autonomous, multifactorial disease in which the interaction of different cell types and disease mechanisms leads to motor neurons failure and loss. This review will introduce the different glial cell types in the CNS and provide an overview of the role of glial cells in motor neuron degeneration in SMA. Furthermore, we will discuss the relevance of these findings so far and the potential impact on the success of available therapies and on the development of novel ones.
脊髓性肌萎缩症(SMA)是一种严重的遗传性疾病,其特征是脊髓前角运动神经元的进行性退化和死亡,导致肌肉萎缩和不同程度的无力。其早发型形式在儿童早期总是致命的,而较轻的形式导致永久性残疾、身体畸形和呼吸并发症。最近,两种新型革命性疗法,反义寡核苷酸和基因治疗,已经获得批准,并且可能在使这些患者长期存活方面取得成功。在这种情况下,深入了解发病机制及其对运动神经元与中枢神经系统(CNS)内其他细胞类型之间相互作用的影响至关重要。使用 SMA 动物和细胞模型的研究告诉我们,运动神经元的存活和功能高度依赖于一系列其他细胞类型,即神经胶质细胞,其负责各种不同的功能,例如神经元营养支持、突触重塑和免疫监视。因此,SMA 可能是一种非细胞自主的、多因素疾病,其中不同细胞类型的相互作用和疾病机制导致运动神经元衰竭和丧失。本综述将介绍 CNS 中的不同神经胶质细胞类型,并概述神经胶质细胞在 SMA 中运动神经元退化中的作用。此外,我们将讨论迄今为止这些发现的相关性以及对现有治疗方法的成功和新型治疗方法的开发的潜在影响。