中国神经再生研究(英文版) ›› 2020, Vol. 15 ›› Issue (11): 2043-2044.doi: 10.4103/1673-5374.282257

• 观点:退行性病与再生 • 上一篇    下一篇

真皮来源成纤维细胞用于肌萎缩性侧索硬化的研究

  

  • 出版日期:2020-11-15 发布日期:2020-08-19

Dermic-derived fibroblasts for the study of amyotrophic lateral sclerosis

Javier Riancho1,2,3, Sara Arozamena1, Adolfo López de Munaín3,4   

  1. 1 Service of Neurology, Hospital Sierrallana-IDIVAL, Torrelavega, Spain  2 Department of Medicine and Psychiatry, University of Cantabria, Santander, Spain  3 Centro de Investigación en Red de Enfermedades Neurodegenerativas, Instituto Carlos III, Madrid, Spain 4 Neurosciences Area, Biodonostia Research Institute; Service of Neurology, Hospital Universitario Donostia; Department of Neurosciences, School of Medicine and Nursery, University of the Basque Country, San Sebastián, Spain 
  • Online:2020-11-15 Published:2020-08-19
  • Contact: Javier Riancho, MD, PhD,javier.riancho86@gmail.com.

摘要: orcid: 0000-0001-7929-1055 (Javier Riancho)

Abstract: Among neurodegenerative diseases, amyotrophic lateral scle- rosis (ALS) is the most frequent one involving motor neurons (MNs). ALS incidence varies throughout the world ranging from 0.7 to 4 cases per 100,000 habitants and year (Riancho et al., 2016). This disease, which currently lacks an effective ther- apy, is characterized by a variable combination of upper and lower MN degeneration, leading to progressive muscle wasting which usually results in a terminal respiratory failure within 3 years after symptom onset (Zufiria et al., 2016). A small propor- tion of ALS cases show familial aggregation. These are related to mutations in specific causative genes (Cr9ORF72, TARDBP, FUS, SOD1 and others) which directly determine disease onset in carriers. By contrast, more than 90 percent of cases are con- sidered to be sporadic, in which generally unknown environ- mental and internal factors interact with genetic predisposing factors finally leading to disease (Riancho et al., 2018). From a histopathological point of view, ALS is characterized by MN damage and loss. MNs from ALS sporadic and most of familial patients exhibit prominent transactive response DNA-binding protein 43 (TDP-43) cytoplasmic aggregates which are con- sidered as the “pathological hallmark” of the disease, except- ing those related to SOD1 and FUS mutations (Zufiria et al., 2016). TDP-43 is a DNA/RNA binding protein encoded by the TARDBP gene that controls the expression of many different genes.