中国神经再生研究(英文版) ›› 2024, Vol. 19 ›› Issue (9): 1875-1876.doi: 10.4103/1673-5374.391183

• 观点:退行性病与再生 • 上一篇    下一篇

PML核小体:家族性肌萎缩侧索硬化症额颞叶痴呆的新参与者?

  

  • 出版日期:2024-09-15 发布日期:2024-01-25

PML nuclear bodies: new players in familial amyotrophic lateral sclerosis-frontotemporal dementia?

Anand Goswami, Serena Carra*   

  1. Institute of Neuropathology, RWTH Aachen University Hospital, Aachen, Germany (Goswami A)
    Department of Neurology, Eleanor and Lou Gehrig ALS Center, Columbia University, New York, NY, USA (Goswami A)
    Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy (Carra S)
  • Online:2024-09-15 Published:2024-01-25
  • Contact: Serena Carra, PhD, serena.carra@unimore.it.
  • Supported by:
    This work was supported by AriSLA Foundation (MLOpathy and SUMOsolvable); Banca d’Italia; German Research Foundation (DFG; WE 1406/16-1); ALS Stichting grant “The Dutch ALS Tissue Bank” (to SC).

摘要: https://orcid.org/0000-0003-0939-0140 (Serena Carra)

Abstract: Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two closely related disorders with overlapping clinical, genetic, and neuropathological features, forming a continuous disease spectrum (Ling et al., 2013). The major pathological hallmark of ALS and FTD are the depletion from the nucleus of the RNA-binding proteins TAR DNA‐binding protein 43 (TDP-43) and FUsed in Sarcoma (FUS) and their abnormal accumulation in ubiquitin-positive cytoplasmic inclusions (Ling et al., 2013). TDP-43 and FUS, whose genetic mutations are associated with the familial forms of ALS-FTD, participate in the regulation of RNA maturation and DNA repair, key processes whose dysregulation is central in ALS-FTD pathogenesis, along with the impairment of protein homeostasis (proteostasis) (Ling et al., 2013).