摘要
阿尔茨海默氏病(AD)是一种遗传(70%)和环境(30%)导致的多因素疾病。在遗传因素中是与家族史的疾病(家族性阿尔茨海默氏病,FAD)和散发性阿尔茨海默氏病(SAD)的基因有关。基因:APP(淀粉样前体蛋白),PSEN1(早老素1)和PSEN2(早老素2)负责家族性阿尔茨海默氏病的存在。APOE基因是负责疾病的散发形式。对免疫原因有关的其他分子因素(TREM2)的疾病是一种脂质紊乱(ABCA1,ABCA7)或生物巯基(MTHFD1)代谢和代谢产物的运输(BIN1)。目前,APOE被认为对家族性阿尔茨海默氏病和散发性阿尔茨海默氏病是一个危险因素。 阿尔茨海默氏病的病理机制是最常见的解释为基于淀粉样蛋白级联理论。这一理论与家族性阿尔茨海默氏病相关,虽然有报告显示其发生的概率在散发性阿尔茨海默氏病。看来,过度沉积β-淀粉样蛋白(Aβ)肽和细胞内神经原纤维缠结tau蛋白过度磷酸化的形式有助于脱氧核糖核酸和核糖核酸的损伤。此外,它被认为,核糖核酸干扰可以影响的病理蛋白(β-淀粉样蛋白,tau蛋白)的水平,以及阿尔茨海默氏病发病和进展。 家族性阿尔茨海默氏病和散发性阿尔茨海默氏病的发病机制完整的了解可能有助于寻找早期的临床诊断和了解后发生的疾病,这可能有助于调整程序,并影响更有效的治疗这种不可治愈的神经系统疾病。
关键词: 遗传和生化因素,脱氧核糖核酸,核糖核酸,家族性阿尔茨海默氏病,散发性阿尔茨海默氏病。
Current Alzheimer Research
Title:Molecular Basis of Familial and Sporadic Alzheimer's Disease
Volume: 13 Issue: 9
Author(s): Jolanta Dorszewska, Michal Prendecki, Anna Oczkowska, Mateusz Dezor, Wojciech Kozubski
Affiliation:
关键词: 遗传和生化因素,脱氧核糖核酸,核糖核酸,家族性阿尔茨海默氏病,散发性阿尔茨海默氏病。
摘要: Alzheimer’s disease (AD) is a multifactorial disease with genetic (70%) and environmental (30%) causes. Among the genetic factors are genes associated with a family history of the disease (familial AD, FAD) and sporadic AD (SAD). The genes: APP (amyloid precursor protein), PSEN1 (Presenilin 1) and PSEN2 (Presenilin 2) are responsible for the presence of FAD. The APOE gene is responsible for the sporadic form of the disease. Other molecular factors related to the immunological cause (TREM2) of the disease are a disorder of the lipid (ABCA1, ABCA7) or biothiol (MTHFD1) metabolism and of the transport of metabolites (BIN1). Currently, it is believed that APOE is a risk factor for both SAD and late-onset FAD.
The pathomechanism of AD is most commonly explained as based on the amyloid cascade theory. This theory is related to the FAD, although there are reports indicating the probability of its occurrence in the SAD. It seems that the excessive deposition of β-amyloid (Aβ) peptides and intracellular neurofibrillary tangles of tau protein hyperphosphorylated forms contribute to the damage of both DNA and RNA. Furthermore, it is believed that RNA-interference can affect both the level of pathological proteins (Aβ, tau protein) and the onset and progress of AD.
It seems that a complete understanding of both FAD and SAD pathogenesis may contribute to the search for earlier clinical diagnosis and to an understanding of later occurrence of the disease, which may help modify its course and affect more effective therapy of this incurable neurological disease.
Export Options
About this article
Cite this article as:
Jolanta Dorszewska, Michal Prendecki, Anna Oczkowska, Mateusz Dezor, Wojciech Kozubski , Molecular Basis of Familial and Sporadic Alzheimer's Disease, Current Alzheimer Research 2016; 13 (9) . https://dx.doi.org/10.2174/1567205013666160314150501
DOI https://dx.doi.org/10.2174/1567205013666160314150501 |
Print ISSN 1567-2050 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-5828 |
Call for Papers in Thematic Issues
New Advances in the Prevention, Diagnosis, Treatment, and Rehabilitation of Alzheimer's Disease
Aims and Scope: Introduction: Alzheimer's disease (AD) poses a significant global health challenge, with an increasing prevalence that demands concerted efforts to advance our understanding and strategies for prevention, diagnosis, treatment, and rehabilitation. This thematic issue aims to bring together cutting-edge research and innovative approaches from multidisciplinary perspectives to address ...read more
Current updates on the Role of Neuroinflammation in Neurodegenerative Disorders
Neuroinflammation is an invariable hallmark of chronic and acute neurodegenerative disorders and has long been considered a potential drug target for Alzheimer?s disease (AD) and dementia. Significant evidence of inflammatory processes as a feature of AD is provided by the presence of inflammatory markers in plasma, CSF and postmortem brain ...read more
Deep Learning for Advancing Alzheimer's Disease Research
Alzheimer's disease (AD) poses a significant global health challenge, with an increasing number of individuals affected yearly. Deep learning, a subfield of artificial intelligence, has shown immense potential in various domains, including healthcare. This thematic issue of Current Alzheimer Research explores the application of deep learning techniques in advancing our ...read more
Diagnostic and therapeutic biomarkers of dementia
Dementia affects 18 million people worldwide. Dementia is a syndrome of symptoms caused by brain disease, usually chronic or progressive, clinically characterized by multiple impairments of higher cortical functions such as memory, thinking, orientation, and learning. In addition, in the course of dementia, cognitive deficits are observed, which often hinder ...read more
- Author Guidelines
- Graphical Abstracts
- Fabricating and Stating False Information
- Research Misconduct
- Post Publication Discussions and Corrections
- Publishing Ethics and Rectitude
- Increase Visibility of Your Article
- Archiving Policies
- Peer Review Workflow
- Order Your Article Before Print
- Promote Your Article
- Manuscript Transfer Facility
- Editorial Policies
- Allegations from Whistleblowers
- Announcements
Related Articles
-
PET Radioligands for In Vivo Visualization of Neuroinflammation
Current Pharmaceutical Design Pharmacogenetics of Childhood Acute Lymphoblastic Leukemia
Current Pharmacogenomics Pathological Brain Image Segmentation and Classification: A Survey
Current Medical Imaging Host Immune Responses to Aeromonas Virulence Factors
Current Immunology Reviews (Discontinued) Linezolid Activity Against Disseminated Listeria monocytogenes Meningitis and Central Nervous System Abscesses: Focus on Early Drug Myelotoxicity
Current Drug Safety Regulation of Apoptosis by Gram-Positive Bacteria: Mechanistic Diversity and Consequences for Immunity
Current Immunology Reviews (Discontinued) Translational Gap in Glioma Research
Anti-Cancer Agents in Medicinal Chemistry One-Compound-Multi-Target: Combination Prospect of Natural Compounds with Thrombolytic Therapy in Acute Ischemic Stroke
Current Neuropharmacology Targeting Heat Shock Proteins 70/90 and Proteasome for Cancer Therapy
Current Medicinal Chemistry Corneal Neovascularization: Molecular Events and Therapeutic Options
Recent Patents on Inflammation & Allergy Drug Discovery Molecularly Guided Therapy of Neuroblastoma: A Review of Different Approaches
Current Pharmaceutical Design Predicting Targeted Polypharmacology for Drug Repositioning and Multi- Target Drug Discovery
Current Medicinal Chemistry “Vascular Incontinence” and Normal-Pressure Hydrocephalus: Two Commonsources of Elderly Incontinence with Brain Etiologies
Current Drug Therapy γ δ T Cells and Dendritic Cells: Close Partners and Biological Adjuvants for New Therapies
Current Molecular Medicine Origins and Consequences of AID Expression in Lymphoid Neoplasms
Current Immunology Reviews (Discontinued) Insights into the Relationship Between Hypertension and Albuminuria
Current Hypertension Reviews Treatment of Choroidal Neovascularization in High Myopia
Current Drug Targets Endoplasmic Reticulum Stress in Chronic Obstructive Lung Diseases
Current Molecular Medicine Vascular Arginase and Hypertension
Current Hypertension Reviews Animal Models of Lupus and Lupus Nephritis
Current Pharmaceutical Design