中国神经再生研究(英文版) ›› 2025, Vol. 20 ›› Issue (5): 1411-1413.doi: 10.4103/NRR.NRR-D-23-01877

• 观点:退行性病与再生 • 上一篇    下一篇

肌萎缩侧索硬化中的小的染色体外环状DNA

  

  • 出版日期:2025-05-15 发布日期:2024-10-30

Small extrachromosomal circular DNA in amyotrophic lateral sclerosis matter

Marcos J. Araúzo-Bravo* , Daniela Gerovska, Matthias Schwab, Alexandra Kretz *   

  1. Computattonal Biology and Systems Biomedicine, Biodonostta Health Research Instttute, San Sebasttan, Spain (Araúzo-Bravo MJ, Gerovska D)  Basque Foundatton for Science, IKERBASQUE, Bilbao, Spain; Max Planck Instttute for Molecular Biomedicine, Computattonal Biology and Bioinformattcs Group, Münster, North RhineWestphalia, Germany (Araúzo-Bravo MJ)  Department of Cell Biology and Histology, Faculty of Medicine and Nursing, University of Basque Country (UPV/EHU), Leioa, Spain (Araúzo-Bravo MJ)  Department of Neurology, Jena University Hospital, Jena, Thuringia, Germany (Schwab M, Kretz A)  
  • Online:2025-05-15 Published:2024-10-30
  • Contact: Alexandra Kretz, MD, alexandra.kretz@med.uni-jena.de; Marcos J. Araúzo-Bravo, PhD, mararabra@yahoo.co.uk.
  • Supported by:
    The lab of AK obtained support from the Interdisciplinary Center for Clinical Research (IZKF) Jena (MSP; Project ID: MSP09). DG and MJAB were supported by the Circular Vision project, which has received funding from the European Union’s Horizon 2020 research and innovatton program (Grant agreement No. 899417), by the Ministerio de Ciencia e Innovación, Spain (Grant No. PID2020-119715GB-I00/ AEI/10.13039/501100011033), and by the Instttuto de Salud Carlos III, Infrastructure of Precision Medicine associated with Science and Technology (IMPaCT) of the Strategic Actton in Health (iDATAMP) (to MJAB). 

摘要: https://orcid.org/0000-0001-5880-603X (Alexandra Kretz) https://orcid.org/0000-0002-3264-464X (Marcos J. Araúzo-Bravo) 

Abstract: Comprehensive studies identify motor neuron spectrum disorders including amyotrophic lateral sclerosis (ALS) as globally rising fatal disorders with the highest prevalence in aging populattons, influenced by ethnicity and ancestry (GBD 2016 Motor Neuron Disease Collaborators, 2018). While ~10% of diagnoses involve a family history (fALS), most cases are considered sporadic (sALS). However, population-based studies suggest that even cases without a common index mutation impart heritability (Ryan et al., 2019), indicating a crucial role of rare and as yet unknown genettc denominators. Genotype-phenotype predictions remain weak despite an ever-rising resolution of background genetics and propose overlap in the (oligo-)genic architecture of simplified fALS and sALS categories. Establishing a new class of genetic biomarkers sensitive to both fALS and nominal sALS would impart paramount value in accelerating diagnosis, ascertaining patient strattffcattons, and improving predictton of disease progression.