中国神经再生研究(英文版) ›› 2023, Vol. 18 ›› Issue (11): 2403-2405.doi: 10.4103/1673-5374.371364

• 观点:脑损伤修复保护与再生 • 上一篇    下一篇

SOD1 和 TARDBP 突变对患者源性运动神经元基因表达损伤的下游影响

  

  • 出版日期:2023-11-15 发布日期:2023-05-04

Combination of novel RNA sequencing and sophisticated network modeling to reveal a common denominator in amyotrophic lateral sclerosis?

Banaja P. Dash, Andreas Hermann*   

  1. Translational Neurodegeneration Section “Albrecht Kossel”, Department of Neurology, University Medical Center Rostock, Rostock, Germany (Dash BP, Hermann A)
    Center for Transdisciplinary Neurosciences Rostock, University Medical Center Rostock, Rostock, Germany (Hermann A) 
    Deutsches Zentrum für Neurodegenerative Erkrankungen (DZNE) Rostock/Greifswald, Rostock, Germany (Hermann A) 
  • Online:2023-11-15 Published:2023-05-04
  • Contact: Andreas Hermann, MD, PhD, andreas.hermann@med.uni-rostock.de.
  • Supported by:
    This work was supported by the Hermann und Lilly Schilling Stiftung für Medizinische Forschung im Stifterverband (to AH).

摘要: https://orcid.org/0000-0002-7364-7791 (Andreas Hermann) 
https://orcid.org/0000-0003-4580-139X (Banaja P. Dash) 

Abstract: Amyotrophic lateral sclerosis (ALS) is one of the most dreadful neurodegenerative diseases leading to death within 1–5 years after symptom onset. The majority of ALS cases are sporadic (sALS), while the remaining 5–10% are familial (fALS). Genetic discoveries have identified ALS-causative mutations in more than 30 genes so far (Chia et al., 2018). Indeed, the four most common mutations observed in ALS genes in Europe are the hexanucleotide expansion repeat in Chromosome 9 Open Reading Frame 72 (C9ORF72), Cu-Zn superoxide dismutase 1 (SOD1)), transactive response DNA Binding protein 43kDa (TARDBP) and fused in sarcoma (FUS). These causative genes encode proteins with divergent sub-cellular functions, many of which are associated with defective DNA repair, altered axonal transport, abnormal protein aggregation including impairment of proteostasis and autophagy, mitochondrial dysfunction, and aberrant RNA metabolism (Chia et al., 2018).