中国神经再生研究(英文版) ›› 2023, Vol. 18 ›› Issue (7): 1463-1471.doi: 10.4103/1673-5374.361544

• 综述:退行性病与再生 • 上一篇    下一篇

成人发病的神经退行性阿尔茨海默病与生命早期神经退行性神经元蜡样脂褐质症之间的融合联系?

  


  • 出版日期:2023-07-15 发布日期:2023-01-11

Converging links between adult-onset neurodegenerative Alzheimer’s disease and early life neurodegenerative neuronal ceroid lipofuscinosis?

Marcel Klein, Guido Hermey*   

  1. Institute for Molecular and Cellular Cognition, Center for Molecular Neurobiology Hamburg, University Medical Center Hamburg-Eppendorf, Hamburg, Germany
  • Online:2023-07-15 Published:2023-01-11
  • Contact: Guido Hermey, PhD, guido.hermey@zmnh.uni-hamburg.de.
  • Supported by:
    The work was supported by the Deutsche Forschungsgemeinschaft (DFG; 425373668, HE 3220/4-1) (to GH).

摘要: https://orcid.org/0000-0003-4762-5262 (Guido Hermey); https://orcid.org/0000-0002-2365-9911 (Marcel Klein)

Abstract: Evidence from genetics and from analyzing cellular and animal models have converged to suggest links between neurodegenerative disorders of early and late life. Here, we summarize emerging links between the most common late life neurodegenerative disease, Alzheimer’s disease, and the most common early life neurodegenerative diseases, neuronal ceroid lipofuscinoses. Genetic studies reported an overlap of clinically diagnosed Alzheimer’s disease and mutations in genes known to cause neuronal ceroid lipofuscinoses. Accumulating data strongly suggest dysfunction of intracellular trafficking mechanisms and the autophagy-endolysosome system in both types of neurodegenerative disorders. This suggests shared cytopathological processes underlying these different types of neurodegenerative diseases. A better understanding of the common mechanisms underlying the different diseases is important as this might lead to the identification of novel targets for therapeutic concepts, the transfer of therapeutic strategies from one disease to the other and therapeutic approaches tailored to patients with specific mutations. Here, we review dysfunctions of the endolysosomal autophagy pathway in Alzheimer’s disease and neuronal ceroid lipofuscinoses and summarize emerging etiologic and genetic overlaps.

Key words: Alzheimer’s disease, autophagy, Batten disease, CLN3 disease, dementia, endosome, lysosome, neurodegeneration, neuronal ceroid lipofuscinosis, presenilin