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基因组完整性与神经疾病。

Genome Integrity and Neurological Disease.

机构信息

Biomedical Research Institute, Hasselt University, 3590 Diepenbeek, Belgium.

出版信息

Int J Mol Sci. 2022 Apr 8;23(8):4142. doi: 10.3390/ijms23084142.

Abstract

Neurological complications directly impact the lives of hundreds of millions of people worldwide. While the precise molecular mechanisms that underlie neuronal cell loss remain under debate, evidence indicates that the accumulation of genomic DNA damage and consequent cellular responses can promote apoptosis and neurodegenerative disease. This idea is supported by the fact that individuals who harbor pathogenic mutations in DNA damage response genes experience profound neuropathological manifestations. The review article here provides a general overview of the nervous system, the threats to DNA stability, and the mechanisms that protect genomic integrity while highlighting the connections of DNA repair defects to neurological disease. The information presented should serve as a prelude to the Special Issue "Genome Stability and Neurological Disease", where experts discuss the role of DNA repair in preserving central nervous system function in greater depth.

摘要

神经并发症直接影响着全世界数亿人的生活。虽然导致神经元细胞死亡的确切分子机制仍存在争议,但有证据表明,基因组 DNA 损伤的积累和随之而来的细胞反应可以促进细胞凋亡和神经退行性疾病。这一观点得到了以下事实的支持:那些携带有 DNA 损伤反应基因致病性突变的个体表现出明显的神经病理学表现。本文综述了神经系统的一般概述、DNA 稳定性的威胁以及保护基因组完整性的机制,同时强调了 DNA 修复缺陷与神经疾病的联系。所提供的信息应作为“基因组稳定性与神经疾病”特刊的前奏,该特刊的专家将更深入地讨论 DNA 修复在维持中枢神经系统功能方面的作用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/47d8/9025063/2691b99e7219/ijms-23-04142-g001.jpg

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