Nouspikel Thierry
Institute for Cancer Studies, University of Sheffield Medical School, Beech Hill Road, Sheffield S10 2RX, United Kingdom.
DNA Repair (Amst). 2008 Jul 1;7(7):1155-67. doi: 10.1016/j.dnarep.2008.03.015. Epub 2008 May 5.
This review will examine the known and postulated relationships between nucleotide excision repair (NER) and neurological diseases. We will begin with a description of NER and its subpathways: global genomic repair (GGR), transcription-coupled repair (TCR) and transcription domain-associated repair (DAR). As far as they are known, the underlying molecular mechanisms will be discussed. We will only briefly touch on the possible contribution of NER to neurodegenerative diseases such as Alzheimer's, but concentrate on neurological symptoms in NER-deficient patients. These are mainly observed in two clinical entities, Xeroderma pigmentosum (XP) and Cockayne syndrome (CS), and we shall try to understand why and how a deficit in DNA repair may result in neurological dysfunctions. The links between NER and neurological disease are also discussed in contributions by Brooks and by Niedernhofer, in this volume.
本综述将探讨核苷酸切除修复（NER）与神经疾病之间已知的和推测的关系。我们将首先描述NER及其子途径：全基因组修复（GGR）、转录偶联修复（TCR）和转录域相关修复（DAR）。就目前所知，我们将讨论其潜在的分子机制。我们将仅简要提及NER对诸如阿尔茨海默病等神经退行性疾病可能产生的影响，而将重点放在NER缺陷患者的神经症状上。这些症状主要见于两种临床病症，即着色性干皮病（XP）和科凯恩综合征（CS），我们将试图理解DNA修复缺陷为何以及如何导致神经功能障碍。布鲁克斯（Brooks）和尼德恩霍费尔（Niedernhofer）在本卷中的文章也讨论了NER与神经疾病之间的联系。
