Related Experiment Video

Updated: Jul 6, 2026

Enrichment of Bruch's Membrane from Human Donor Eyes
10:22

Enrichment of Bruch's Membrane from Human Donor Eyes

Published on: November 15, 2015

Genetic deficiency of complement factor H in a patient with age-related macular degeneration and

Tamara Montes1, Elena Goicoechea de Jorge, Rosa Ramos

  • 1Centro de Investigaciones Biológicas and Centro de Investigación Biomédica en Enfermedades Raras, Ramiro de Maeztu 9, Madrid, Spain.

Molecular Immunology
|March 14, 2008
PubMed

Insights

Age-related macular degeneration and membranoproliferative glomerulonephritis type II share a genetic link to complement genes. A novel mutation in factor H was identified, suggesting a common pathway in these dense deposit diseases.

Area of Science:

  • Genetics
  • Immunology
  • Ophthalmology
  • Nephrology

Background:

  • Age-related macular degeneration (AMD) and membranoproliferative glomerulonephritis type II (MPGN2) are rare, severe diseases characterized by dense deposits.
  • Both conditions are linked to genetic factors involving the complement system, a crucial part of the immune system.

Observation:

  • A 64-year-old male patient developed both AMD and MPGN2.
  • He exhibited low plasma C3 levels, borderline low factor H, and traces of C3NeF.
  • Genetic analysis revealed a novel mutation in the CFH gene (c.1292 G>A), leading to a Cys431Tyr substitution in factor H.

Findings:

  • The patient was a carrier of multiple genetic risk factors for AMD and MPGN2.
  • Proteomic and functional studies confirmed the absence of the mutated factor H allele in his plasma, indicating partial factor H deficiency.
  • The identified mutation and other genetic factors create a profile consistent with complement dysregulation.

Implications:

  • These findings support the hypothesis that AMD and MPGN2 share a common pathogenic mechanism.
  • Dysregulation of the alternative pathway of complement activation is implicated as the underlying cause.
  • Understanding this shared pathway could lead to new diagnostic and therapeutic strategies for dense deposit diseases.

More Related Videos

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging09:37

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

Published on: July 14, 2016

Efficient Dissection and Culture of Primary Mouse Retinal Pigment Epithelial Cells08:33

Efficient Dissection and Culture of Primary Mouse Retinal Pigment Epithelial Cells

Published on: February 10, 2021

Related Concept Videos

Complement System01:27

Complement System

The complement system is a group of approximately 20 plasma proteins that strengthen the body's defenses against infections through opsonization, inflammation, and cell lysis. Opsonization involves coating pathogens with complement proteins, making them more recognizable and facilitating phagocyte engulfment. Certain complement proteins induce inflammation that attracts immune cells to the site of infection. Cell lysis involves the destruction of pathogens through the formation of a membrane...
Photoreceptors and Visual Pathways01:22

Photoreceptors 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...
Nephrotic Syndrome I : Introduction01:24

Nephrotic Syndrome I : Introduction

Nephrotic Syndrome is a chronic kidney disorder defined by clinical findings such as severe proteinuria, hypoalbuminemia, hyperlipidemia, and edema. These symptoms result from damage to the glomeruli, the kidney’s filtering units, increasing their permeability to proteins.Definition and Meaning:Proteinuria, defined as the loss of more than 3.5 grams of protein per day in adults, is a crucial feature of nephrotic syndrome. This condition is often accompanied by edema, the accumulation of fluid...
Humoral Immune Responses01:36

Humoral Immune Responses

Overview
Diabetic Retinopathy01:27

Diabetic 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...
Immunodeficiency Diseases01:25

Immunodeficiency Diseases

Immunodeficiency disorders are conditions in which the immune system's ability to fight infectious disease and cancer is compromised or entirely absent. The immune system comprises a complex network of cells, tissues, and organs that work together to protect the body from potentially harmful invaders. When this system is deficient or not functioning properly, it leaves the body susceptible to infections, diseases, or other complications.
There are three main causes of immunodeficiency disorders...