Related Experiment Video
Updated: Jul 25, 2026
09:37
A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
Published on: July 14, 2016
[Age-related macular degeneration and genetics]
1Clinique Ophtalmologique Universitaire de Créteil, Université Paris XII, 40, avenue de Verdun, 94010 Créteil, France. gisele.soubrane@chicreteil.fr
Journal Francais D'Ophtalmologie
|March 16, 2002
Summary
Genetic factors influence age-related macular degeneration (AMD). ApoE epsilon 4 may protect against AMD, while ABCR gene mutations predispose individuals to developing this common cause of vision loss.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Context:
- Age-related macular degeneration (AMD) is a leading cause of vision loss in individuals over 55.
- Familial aggregation and twin studies suggest a significant genetic contribution to AMD.
- The polygenic and multifactorial nature of AMD complicates traditional linkage studies.
Purpose:
- To investigate the genetic underpinnings of age-related macular degeneration.
- To identify specific genes and their variants associated with AMD development and progression.
- To elucidate the roles of the apoE and ABCR genes in the pathogenesis of AMD.
Summary:
- Gene candidate strategies excluded VMD2, RDS, and TIMP3, implicating apoE and ABCR genes.
- Lower frequency of apoE epsilon 4 allele carriers in exudative AMD suggests a protective role against drusen formation.
- Heterozygous mutations in the ABCR gene are confirmed as predisposing factors for AMD within a complex genetic model.
Impact:
- Identifies apoE epsilon 4 as a potential protective factor, offering insights into AMD prevention strategies.
- Confirms ABCR gene mutations as risk factors, aiding in genetic counseling and risk assessment for AMD.
- Advances understanding of AMD's genetic architecture, paving the way for targeted therapeutic interventions.
More Related Videos
Related Concept Videos
01:11Genetic Lingo
Overview
01:22Photoreceptors and Visual Pathways
At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category, whereas...
01:22Pharmacokinetics in Geriatric Patients: Effect of Age on Drug Absorption
As individuals age, their body's physiology evolves, affecting drug pharmacokinetics. The most apparent changes occur in the gastrointestinal tract, where an increase in gastric pH, a delay in gastric emptying, and a reduction in gastrointestinal motility are observed. Remarkably, these changes do not substantially modify the absorption of orally administered drugs, particularly those absorbed via passive diffusion.Transdermal drug delivery emerges as a highly viable method for older adults due...
01:29Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
01:28Human Genetics
Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
The complex relationship between genetics and psychology is observable through common biological components such...
01:27Diabetic Retinopathy
DefinitionDiabetic retinopathy is a microvascular complication of diabetes affecting the retinal blood vessels.Risk FactorsDiabetic retinopathy is present in almost all individuals with type 1 diabetes and more than 60% of those with type 2 diabetes after two decades of disease.The risk increases with poor glycemic control, hypertension, dyslipidemia, smoking, pregnancy, and puberty.Although cataracts and glaucoma are also more frequent in people with diabetes, retinopathy remains the leading...