Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia.
Int J Mol Sci. 2023 Sep 6;24(18):13743. doi: 10.3390/ijms241813743.
Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disease that is characterized by progressive muscle atrophy (degeneration), including skeletal muscles in charge of the ability to move. SMA is caused by defects in the SMN1 gene (Survival of Motor Neuron 1) which encodes a protein crucial for the survival and functionality of neuron cells called motor neurons. Decreased level of functioning SMN protein leads to progressive degeneration of alpha-motor neurons performing muscular motility. Over the past decade, many strategies directed for SMN-level-restoration emerged, such as gene replacement therapy (GRT), CRISPR/Cas9-based gene editing, usage of antisense oligonucleotides and small-molecule modulators, and all have been showing their perspectives in SMA therapy. In this review, modern SMA therapy strategies are described, making it a valuable resource for researchers, clinicians and everyone interested in the progress of therapy of this serious disorder.
脊髓性肌萎缩症（SMA）是一种罕见的常染色体隐性神经肌肉疾病，其特征是进行性肌肉萎缩（变性），包括负责运动能力的骨骼肌。SMA 是由 SMN1 基因（运动神经元存活 1）缺陷引起的，该基因编码一种对神经元细胞（运动神经元）存活和功能至关重要的蛋白质。SMN 蛋白功能下降导致执行肌肉运动的α-运动神经元进行性退化。在过去的十年中，已经出现了许多针对 SMN 水平恢复的策略，例如基因替代疗法（GRT）、基于 CRISPR/Cas9 的基因编辑、反义寡核苷酸和小分子调节剂的使用，并且都在 SMA 治疗中显示出了它们的前景。在这篇综述中，描述了现代 SMA 治疗策略，使其成为研究人员、临床医生和所有对这种严重疾病治疗进展感兴趣的人的有价值的资源。
