Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation

Wang, Jen‐Chyong; Alinaghi, Somayeh; Tafakhori, Abbas; Sikora, Elizabeth; Azcona, Luís; Karkheiran, Siamak; Goate, Alison M.; Paisán-Ruı́z, Coro; Darvish, Hossein

doi:10.1016/j.neurobiolaging.2017.10.011

Cited by 12 publications

(8 citation statements)

References 17 publications

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“…With the development of this technology, CRISPR/Cas9 gene editing system has been extensively applied to gene engineering such as genes knocking-in of mammalian cells (Banan, 2020), human diseases modeling (Torres-Ruiz and Rodriguez-Perales, 2017) and gene therapy, etc. In recent years, the CRISPR/Cas9 technology has improved dramatically over the past decade, and the efficiency of CRISPR/Cas9 system can be greatly increased by lipid-encapsulated gold nanoparticles as a multifunctional vehicle enabling a more effective therapy for tumor (Wang et al, 2018a). By means of the application of artificial virus, CRISPR/Cas9 system has many advantages such as minimum side effects, high efficiency and security over other superinfect and lipofectamine methods (Li et al, 2017).…”

Section: The Development Of Crispr/cas9 System and Its Advantages Over Other Gene-editing Technologiesmentioning

confidence: 99%

“…Inspiringly, the expression of Cas9 protein was initially found after 24 h, and TIPS fluorescence was detected in most cells (Jo et al, 2020). In addition, Wang et al (2018a) reported a strategy to deliver Cas9-sgPlk-1 plasmids (CPs) which is condensed on TAT peptide-modified Au nanoparticles (AuNPs/CP, ACP) via electrostatic interactions, following lipid-encapsulated and lasercontrolled. This method for CRISPR/Cas9 delivery is highly efficient (Wang et al, 2018a).…”

Section: Plasmid-based Approachesmentioning

confidence: 99%

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Application of CRISPR/Cas9 in Alzheimer’s Disease

Cai

et al. 2021

Front. Neurosci.

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Alzheimer’s disease (AD) is a progressive and irreversible neurodegenerative disorder clinically characterized by cognitive impairment, abnormal behavior, and social deficits, which is intimately linked with excessive β-amyloid (Aβ) protein deposition along with many other misfolded proteins, neurofibrillary tangles formed by hyperphosphorylated tau protein aggregates, and mitochondrial damage in neurons, leading to neuron loss. Currently, research on the pathological mechanism of AD has been elucidated for decades, still no effective treatment for this complex disease was developed, and the existing therapeutic strategies are extremely erratic, thereby leading to irreversible and progressive cognitive decline in AD patients. Due to gradually mental dyscapacitating of AD patients, AD not only brings serious physical and psychological suffering to patients themselves, but also imposes huge economic burdens on family and society. Accordingly, it is very imperative to recapitulate the progress of gene editing-based precision medicine in the emerging fields. In this review, we will mainly focus on the application of CRISPR/Cas9 technique in the fields of AD research and gene therapy, and summarize the application of CRISPR/Cas9 in the aspects of AD model construction, screening of pathogenic genes, and target therapy. Finally, the development of delivery systems, which is a major challenge that hinders the clinical application of CRISPR/Cas9 technology will also be discussed.

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Section: The Development Of Crispr/cas9 System and Its Advantages Over Other Gene-editing Technologiesmentioning

confidence: 99%

Section: Plasmid-based Approachesmentioning

confidence: 99%

Application of CRISPR/Cas9 in Alzheimer’s Disease

Cai

et al. 2021

Front. Neurosci.

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“…Hcy level changes AD development by inducing neuronal DNA damage, neuroinflammation, apoptosis, and autophagy abnormalities [ 117 – 119 ]. Genetic variation affects the relevant genes, which advances the age of onset and accelerates cognitive function decline [ 120 , 121 ].…”

Section: Homocysteine In Alzheimer's Diseasementioning

confidence: 99%

Abnormal Homocysteine Metabolism: An Insight of Alzheimer’s Disease from DNA Methylation

Liu

Shi

2020

Behavioural Neurology

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Alzheimer’s disease (AD) is a chronic neurodegenerative disease in the central nervous system that has complex pathogenesis in the elderly. The current review focuses on the epigenetic mechanisms of AD, according to the latest findings. One of the best-characterized chromatin modifications in epigenetic mechanisms is DNA methylation. Highly replicable data shows that AD occurrence is often accompanied by methylation level changes of the AD-related gene. Homocysteine (Hcy) is not only an intermediate product of one-carbon metabolism but also an important independent risk factor of AD; it can affect the cognitive function of the brain by changing the one-carbon metabolism and interfering with the DNA methylation process, resulting in cerebrovascular disease. In general, Hcy may be an environmental factor that affects AD via the DNA methylation pathway with a series of changes in AD-related substance. This review will concentrate on the relation between DNA methylation and Hcy and try to figure out their rule in the pathophysiology of AD.

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“…Many theories about pathological processes can be learned from literature including genetics which can play a role in some types of familiar and early-onset degenerative disorders of Alzheimer type (9)(10)(11) and be a link between immunity and the disease (12,13). When searching the molecular processes related to Alzheimer disease, two dominant pathological hallmarks were identifi ed.…”

Section: Current Therapy and The Major Pathological Processes Relatedmentioning

confidence: 99%

Oxidative stress in Alzheimer disease as a target for therapy

Pohanka¹

2018

BLL

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In the recent time, neurodegenerative disorders like Alzheimer disease were recognized for their significant role in the current healthcare because of their growing incidence and costs for health insurance systems. Effective therapy is missing and even etiology of the diseases like Alzheimer disease is not deeply known. In the case of Alzheimer disease, it is probable that oxidative stress is at least a factor involved in the disease. Nevertheless, the current literature is controversial and ambiguous in this matter. This review is focused on mapping the role of oxidative stress as well as on a consideration that oxidative stress represents the pathway at which a therapeutic strategy can be aimed. This paper provides a survey of contemporary literature on oxidative stress in Alzheimer disease and discusses the opportunities for establishing a therapy based on interfering the stress (Fig. 5, Ref. 117).

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Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation

Cited by 12 publications

References 17 publications

Application of CRISPR/Cas9 in Alzheimer’s Disease

Application of CRISPR/Cas9 in Alzheimer’s Disease

Abnormal Homocysteine Metabolism: An Insight of Alzheimer’s Disease from DNA Methylation

Oxidative stress in Alzheimer disease as a target for therapy

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