与神经退行性疾病相关的蛋白质：与DNA修复的联系

Proteins Associated with Neurodegenerative Diseases: Link to DNA Repair.

作者信息

Khodyreva Svetlana N, Dyrkheeva Nadezhda S, Lavrik Olga I

机构信息

Institute of Chemical Biology and Fundamental Medicine, Siberian Branch of Russian Academy of Sciences, 8 Akad. Lavrentyeva pr., Novosibirsk 630090, Russia.

Faculty of Natural Sciences, Novosibirsk State University, 2 Pirogova Str., Novosibirsk 630090, Russia.

出版信息

Biomedicines. 2024 Dec 11;12(12):2808. doi: 10.3390/biomedicines12122808.

DOI:10.3390/biomedicines12122808

PMID:39767715

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11673744/

Abstract

The nervous system is susceptible to DNA damage and DNA repair defects, and if DNA damage is not repaired, neuronal cells can die, causing neurodegenerative diseases in humans. The overall picture of what is known about DNA repair mechanisms in the nervous system is still unclear. The current challenge is to use the accumulated knowledge of basic science on DNA repair to improve the treatment of neurodegenerative disorders. In this review, we summarize the current understanding of the function of DNA damage repair, in particular, the base excision repair and double-strand break repair pathways as being the most important in nervous system cells. We summarize recent data on the proteins involved in DNA repair associated with neurodegenerative diseases, with particular emphasis on PARP1 and ND-associated proteins, which are involved in DNA repair and have the ability to undergo liquid-liquid phase separation.

摘要

神经系统易受DNA损伤和DNA修复缺陷的影响，如果DNA损伤得不到修复，神经元细胞可能会死亡，从而导致人类神经退行性疾病。目前对于神经系统中DNA修复机制的整体认识仍不明确。当前的挑战是利用积累的关于DNA修复的基础科学知识来改善神经退行性疾病的治疗。在这篇综述中，我们总结了目前对DNA损伤修复功能的理解，特别是碱基切除修复和双链断裂修复途径在神经细胞中最为重要。我们总结了与神经退行性疾病相关的参与DNA修复的蛋白质的最新数据，特别强调了PARP1和与神经退行性疾病相关的蛋白质，它们参与DNA修复并具有发生液-液相分离的能力。