认知功能与DNA修复机制的基因决定效率有关
Nicolas Cherbuin1, Hardip Patel2, Erin I Walsh1
1National Centre for Epidemiology and Population Health, Australian National University, Canberra 2601, Australia.
Genes
|February 24, 2024
概括
基切除修复 (BER) 基因的遗传变异影响认知功能和大脑结构. 这些DNA修复基因差异可能解释了为什么一些人更容易受到神经退行和痴呆症的影响.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 认知科学 认知科学
背景情况:
- 已经确定了神经退行和痴呆的可修改风险因素,但个人的脆弱性各不相同.
- 这种变化可能源于个体之间DNA修复机制效率的差异.
研究的目的:
- 研究DNA修复基因,认知功能和大脑结构中的遗传变异之间的关联.
- 探索基切除修复 (BER) 基因中的单核酸多态 (SNPs) 是否与认知表现和大脑测量相关.
主要方法:
- 利用了488,159名英国生物库参与者的数据,并提供了可用的认知和遗传数据.
- 在几个基切除修复 (BER) 基因中分析了单核酸多态 (SNPs),包括OGG1,NEIL1,NEIL2,NEIL3,MUTYH和NTHL1.
- 采用等级回归和潜在类分析来评估SNP与认知指标之间的关联,以及在子集中的大脑指标.
主要成果:
- 在13个分析的SNP中,有12个与认知功能有统计学意义的关联.
- 最实质性的影响 (1-6%的认知功能差异) 与NEIL1 (rs7402844),NEIL2 (rs6601606) 和NTHL1 (rs2516739) 有关.
- 关联显示出基于年龄和性别的差异,中年女性观察到的效果更为明显. 还注意到与大脑测量的较弱关联.
结论:
- 特定基切除修复 (BER) 基因的变化与认知功能和大脑结构有关.
- 这些遗传差异可能导致不同个体对神经退行和痴呆的敏感性.
相关概念视频
Overview of DNA Repair
31.0K
In order to be passed through generations, genomic DNA must be undamaged and error-free. However, every day, DNA in a cell undergoes several thousand to a million damaging events by natural causes and external factors. Ionizing radiation such as UV rays, free radicals produced during cellular respiration, and hydrolytic damage from metabolic reactions can alter the structure of DNA. Damages caused include single-base alteration, base dimerization, chain breaks, and cross-linkage.
Chemically...
Chemically...
31.0K
Nucleotide Excision Repair
3.5K
DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
3.5K
Long-patch Base Excision Repair
7.0K
Since the discovery of the two BER pathways, there has been a debate about how a cell chooses one pathway over the other and the factors determining this selection. Numerous in vitro experiments have pointed out multiple determinants for the sub-pathway selection. These are:
7.0K
Mismatch Repair
4.8K
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
4.8K
Base Excision Repair
22.3K
One of the common DNA damages is the chemical alteration of single bases by alkylation, oxidation, or deamination. The altered bases cause mispairing and strand breakage during replication. This type of damage causes minimal change to the DNA double helix structure and can be repaired by the base excision repair (BER) pathways. BER corrects damaged DNA sequences by removing the damaged base and restoring the original base sequence using the complementary strand as a template.
The first step of...
The first step of...
22.3K
Base-pairing and DNA Repair
64.7K
64.7K


