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J Cell Biochem. 2022 Oct;123(10):1674-1698. doi: 10.1002/jcb.30329. Epub 2022 Sep 21.
3
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4
Applications of CRISPR-Cas9 in Alzheimer's Disease and Related Disorders.CRISPR-Cas9 在阿尔茨海默病及相关疾病中的应用。
Int J Mol Sci. 2022 Aug 5;23(15):8714. doi: 10.3390/ijms23158714.
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BioTech (Basel). 2021 Jul 6;10(3):14. doi: 10.3390/biotech10030014.
6
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Target binding and residence: a new determinant of DNA double-strand break repair pathway choice in CRISPR/Cas9 genome editing.靶结合和居留:CRISPR/Cas9 基因组编辑中 DNA 双链断裂修复途径选择的新决定因素。
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CRISPR-Cas9在阿尔茨海默病治疗中的作用及应用

Role and application of CRISPR-Cas9 in the management of Alzheimer's disease.

作者信息

Soni Nilay, Kar Indrani, Narendrasinh Jadav Dhruvkumar, Shah Sanjay Kumar, Konathala Lohini, Mohamed Nadine, Kachhadia Meet Popatbhai, Chaudhary Mitul Hareshkumar, Dave Vyapti A, Kumar Lakshya, Ahmadi Leeda, Golla Varshitha

机构信息

Department of General Medicine, M. P. Shah medical college, Jamnagar.

Department of General Medicine, Lady Hardinge Medical College, University of Delhi.

出版信息

Ann Med Surg (Lond). 2024 Jan 5;86(3):1517-1521. doi: 10.1097/MS9.0000000000001692. eCollection 2024 Mar.

DOI:10.1097/MS9.0000000000001692
PMID:38463115
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10923336/
Abstract

Alzheimer's disease (AD) is a serious health issue that has a significant social and economic impact worldwide. One of the key aetiological signs of the disease is a gradual reduction in cognitive function and irreversible neuronal death. According to a 2019 global report, more than 5.8 million people in the United States (USA) alone have received an AD diagnosis, with 45% of those people falling into the 75-84 years age range. According to the predictions, there will be 15 million affected people in the USA by 2050 due to the disease's steadily rising patient population. Cognitive function and memory formation steadily decline as a result of an irreversible neuron loss in AD, a chronic neurodegenerative illness. Amyloid-beta and phosphorylated Tau are produced and accumulate in large amounts, and glial cells are overactive. Additionally, weakened neurotrophin signalling and decreased synapse function are crucial aspects of AD. Memory loss, apathy, depression, and irritability are among the primary symptoms. The aetiology, pathophysiology, and causes of both cognitive decline and synaptic dysfunction are poorly understood despite extensive investigation. CRISPR/Cas9 is a promising gene-editing technique since it can fix certain gene sequences and has a lot of potential for treating AD and other human disorders. Regardless of hereditary considerations, an altered Aβ metabolism is frequently seen in familial and sporadic AD. Therefore, since mutations in the PSEN-1, PSEN-2 and APP genes are a contributing factor to familial AD, CRISPR/Cas9 technology could address excessive Aβ production or mutations in these genes. Overall, the potential of CRISPR-Cas9 technology outweighs it as currently the greatest gene-editing tool available for researching neurodegenerative diseases like AD.

摘要

阿尔茨海默病(AD)是一个严重的健康问题,在全球范围内具有重大的社会和经济影响。该疾病的关键病因学标志之一是认知功能逐渐下降和不可逆的神经元死亡。根据2019年的一份全球报告,仅在美国就有超过580万人被诊断患有AD,其中45%的人年龄在75 - 84岁之间。据预测,到2050年,由于该疾病患者数量稳步上升,美国将有1500万人受其影响。作为一种慢性神经退行性疾病,AD中不可逆的神经元丧失导致认知功能和记忆形成稳步下降。β-淀粉样蛋白和磷酸化 Tau 大量产生并积累,神经胶质细胞过度活跃。此外,神经营养因子信号减弱和突触功能下降是AD的关键方面。记忆丧失、冷漠、抑郁和易怒是主要症状。尽管进行了广泛研究,但认知衰退和突触功能障碍的病因、病理生理学及原因仍知之甚少。CRISPR/Cas9是一种很有前景的基因编辑技术,因为它可以修复特定的基因序列,在治疗AD和其他人类疾病方面有很大潜力。无论遗传因素如何,在家族性和散发性AD中经常可见Aβ代谢改变。因此,由于PSEN - 1、PSEN - 2和APP基因的突变是家族性AD的一个促成因素,CRISPR/Cas9技术可以解决这些基因中Aβ产生过多或突变的问题。总体而言,CRISPR - Cas9技术的潜力大于其局限性,目前它是研究像AD这样的神经退行性疾病的最强大基因编辑工具。