中国神经再生研究(英文版) ›› 2018, Vol. 13 ›› Issue (5): 813-814.doi: 10.4103/1673-5374.232473

• 观点:脊髓损伤修复保护与再生 • 上一篇    下一篇

自噬抑制:脊髓性肌萎缩的一种新的治疗靶点

  

  • 收稿日期:2018-04-17 出版日期:2018-05-15 发布日期:2018-05-15

Autophagy inhibition: a new therapeutic target in spinal muscular atrophy

Antonio Piras, Marina Boido   

  1. Neuroscience Institute Cavalieri Ottolenghi (NICO), Dept. Neuroscience, University of Torino, Torino, Italy
  • Received:2018-04-17 Online:2018-05-15 Published:2018-05-15
  • Contact: AstraZeneca M?lndal, Sweden.

摘要:

orcid: 0000-0003-3052-1715 (Antonio Piras)

Abstract:

Spinal muscular atrophy (SMA) is a hereditary pediatric motor neuron (MN) disease: survival motor neuron 1 (SMN1) gene mutation determines MN degeneration and, consequently, muscle atrophy, breathing and swallowing difficulties, and, in the most severe cases, premature death. A second unaffected gene (SMN2) is present, but it can only produce a limited amount of functional protein, modulating the disease severity and progression. SMN, ubiquitously expressed, is mainly involved in the assembly of small nuclear ribonucleoproteins and pre-mRNA splicing requirements (Lunn and Wang, 2008). Its reduction determines selective MN loss: the type of cell death leading to neurodegeneration remains debated, since evidence of both increased apoptosis and dysregulated autophagy have been reported in SMA.