Abstract
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.
Keywords: Genetic and biochemical factors, DNA, RNA, FAD, SAD.
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 and Wojciech Kozubski
Affiliation:
Keywords: Genetic and biochemical factors, DNA, RNA, FAD, SAD.
Abstract: 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:
Dorszewska Jolanta, Prendecki Michal, Oczkowska Anna, Dezor Mateusz and Kozubski Wojciech, 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
-
Does Calprotectin Represent a Regulatory Factor in Host Defense or a Drug Target in Inflammatory Disease?
Endocrine, Metabolic & Immune Disorders - Drug Targets Neurotrophin Propeptides: Biological Functions and Molecular Mechanisms
Current Protein & Peptide Science Tetracyclines and Pulmonary Inflammation
Endocrine, Metabolic & Immune Disorders - Drug Targets A Systematic Review on Levosimendan in Paediatric Patients
Current Vascular Pharmacology Antioxidant Properties of Crocus Sativus L. and Its Constituents and Relevance to Neurodegenerative Diseases; Focus on Alzheimer’s and Parkinson’s Disease
Current Neuropharmacology Relations between GPR4 Expression, Microvascular Density (MVD) and Clinical Pathological Characteristics of Patients with Epithelial Ovarian Carcinoma (EOC)
Current Pharmaceutical Design Effects of Highly Active Antiretroviral Therapy on HIV-1-Associated Oral Complications
Current HIV Research Ascorbic Acid: An Old Player with a Broad Impact on Body Physiology Including Oxidative Stress Suppression and Immunomodulation: A Review
Mini-Reviews in Medicinal Chemistry Drug Delivery Systems for the Treatment of Diabetes Mellitus: State of the Art
Current Pharmaceutical Design Histone Deacetylase Inhibitors: A New Wave of Molecular Targeted Anticancer Agents
Recent Patents on Anti-Cancer Drug Discovery Effects of Amine Oxidases in Allergic and Histamine-Mediated Conditions
Recent Patents on Inflammation & Allergy Drug Discovery Cystic Hygroma with Multiple Benign Bone Lymphangiomas in an Adult Patient: A Rare Entity in the Differential Diagnosis of Multiple Osseous Lesions in Oncology Practice
Current Medical Imaging Non Coding RNA in Muscle Differentiation and Disease
MicroRNA Involvement of microRNA-146a in the Inflammatory Response of S tatus Epilepticus Rats
CNS & Neurological Disorders - Drug Targets Why are Excipients Important to Neonates?
Current Pharmaceutical Design Hybrid PET Imaging in Neurologic Disease: PET/MRI Rather than PET/CT
Current Medical Imaging Interaction of Isoflavones with the BCRP/ABCG2 Drug Transporter
Current Drug Metabolism Fetal Mesenchymal Stem Cells in Cancer Therapy
Current Stem Cell Research & Therapy Syphilis: An Epidemiological Review
Current Women`s Health Reviews ErbB Targeted Drugs and Angiogenesis
Current Vascular Pharmacology