Related Experiment Video
Updated: Aug 10, 2026
04:41
Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
Published on: January 9, 2020
[Genes in Alzheimer's disease]
1Servicio de Psiquiatría, Hospital Universitario 12 de Octubre, Madrid, Spain. jhoenicka.hdoc@salud.madrid.org
Revista De Neurologia
|March 16, 2006
Summary
Alzheimer's disease (AD) is a common dementia. While mutations in APP, PSEN1, and PSEN2 genes cause early-onset AD, the APOE epsilon4 allele is a key genetic risk factor for late-onset Alzheimer's disease.
Area of Science:
- Neuroscience
- Genetics
- Gerontology
Context:
- Alzheimer's disease (AD) is the most prevalent form of dementia in the elderly.
- Early-onset familial AD cases (<65 years) represent about 13% of early cases, linked to specific gene mutations.
- Late-onset AD involves complex interactions between genetic and environmental factors.
Purpose:
- To review the genetic factors contributing to Alzheimer's disease.
- To identify known genetic mutations and risk factors associated with AD.
- To explore the role of genetic loci in AD pathogenesis.
Summary:
- Mutations in amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) genes are implicated in less than 5% of AD cases, primarily early-onset.
- The APOE epsilon4 allele is identified as a significant genetic risk factor for late-onset AD across diverse populations.
- Genetic epidemiological studies indicate the involvement of additional genetic loci beyond APOE epsilon4 in AD development.
Impact:
- Understanding genetic contributions to AD aids in risk assessment and potential therapeutic target identification.
- Highlights the importance of genetic screening for individuals with a family history of early-onset AD.
- Emphasizes the need for further research into the complex genetic architecture of late-onset AD.
More Related Videos
09:33Quantitative 3D In Silico Modeling (q3DISM) of Cerebral Amyloid-beta Phagocytosis in Rodent Models of Alzheimer's Disease
Published on: December 26, 2016
04:22Biomarker Identification for Gender Specificity of Alzheimer's Disease Based on the Glial Transcriptome Profiles
Published on: May 20, 2024
Related Concept Videos
01:23Alzheimer Disease ll: Pathophysiology
Alzheimer disease involves structural changes in the brain that begin long before symptoms appear. The most distinctive features are extracellular neuritic plaques and intracellular neurofibrillary tangles.Neuritic plaques form in the cerebral cortex and around blood vessels. These plaques contain a dense core of beta-amyloid (Aβ)—a toxic protein fragment that clumps outside neurons. The core is surrounded by damaged neuronal extensions, as well as reactive astrocytes and microglia. Abnormal...
01:29Alzheimer Disease l: Introduction
Alzheimer disease is a chronic, progressive, and irreversible neurodegenerative disorder and the most common cause of dementia in older adults. It leads to gradual neuronal loss, causing cognitive decline, behavioral changes, and loss of functional independence.Risk Factors and EtiologyThe disease is multifactorial. Age is the strongest risk factor, with prevalence doubling every 5 years after age 65. Genetic factors include mutations in genes such as APP, PSEN1, and PSEN2, which are associated...
01:26Alzheimer's Disease: Overview
Alzheimer's Disease (AD) is a continually advancing neurodegenerative disorder, distinguished by escalating memory loss, cognitive dysfunction, and dementia. The disease unfolds in three stages: preclinical, mild cognitive impairment (MCI), and dementia. Its onset is insidious, and the progression gradual, with the cause not well explained by other disorders.
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ and tau...
The clinical diagnosis of AD hinges on the presence of memory and other cognitive impairments. Biomarkers, such as changes in Aβ and tau...
01:22Alzheimer's Disease: Treatment
Alzheimer's Disease (AD), a neurodegenerative disorder, is pathologically identified by amyloid plaques and neurofibrillary tangles composed of tau protein. AD pharmacotherapy aims to manage cognitive symptoms, delay disease progression, and treat behavioral symptoms. The treatment is primarily symptomatic and palliative, with no definitive disease-modifying therapy available. Cholinesterase inhibitors, including donepezil (Aricept), rivastigmine (Exelon), and galantamine (Razadyne), are...
01:22Dementia l: Introduction
Dementia is an acquired, progressive syndrome characterized by a decline in multiple cognitive domains severe enough to impair daily functioning and reduce independence. Although memory loss is a central feature, the diagnosis requires additional deficits involving language, executive function, visuospatial skills, judgment, calculation, or abstract reasoning. These cognitive impairments reflect underlying neurodegenerative or vascular processes that gradually disrupt neuronal networks...
01:24Parkinson Disease ll: Pathophysiology
Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...