Related Experiment Video

Updated: May 22, 2026

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging
09:37

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

Published on: July 14, 2016

A hybrid CFHR3-1 gene causes familial C3 glomerulopathy

Talat H Malik1, Peter J Lavin, Elena Goicoechea de Jorge

  • 1Centre for Complement and Inflammation Research, Imperial College, London, United Kingdom.

Journal of the American Society of Nephrology : JASN
|May 26, 2012
PubMed

Insights

A genetic study reveals that abnormal copy numbers of complement factor H-related genes (CFHR3 and CFHR1) and a hybrid CFHR3-1 gene are linked to complement-mediated glomerulonephritis (GN). This finding also sheds light on the protective role of CFHR3 and CFHR1 deletions in IgA nephropathy.

Area of Science:

  • Immunology
  • Genetics
  • Nephrology

Background:

  • The complement system, crucial for innate immunity, can cause tissue damage if not properly regulated.
  • Complement factor H (CFH) and its related proteins (CFHR1-5) regulate complement activation.
  • Combined deletion of CFHR3 and CFHR1 is known to protect against IgA nephropathy.

Purpose of the Study:

  • To investigate the genetic basis of autosomal dominant complement-mediated GN.
  • To explore the role of CFHR gene copy number variations in kidney disease.

Main Methods:

  • Genetic analysis of affected individuals and families.
  • Copy number variation analysis of CFHR3 and CFHR1 loci.
  • Identification of hybrid CFHR3-1 gene.

Main Results:

  • Identified autosomal dominant complement-mediated GN associated with increased copy numbers of CFHR3 and CFHR1.
  • Discovered a unique hybrid CFHR3-1 gene in affected individuals.
  • Established a link between these genetic alterations and complement-mediated kidney disease.

Conclusions:

  • Abnormal CFHR gene copy numbers and hybrid genes contribute to complement-mediated GN.
  • These findings deepen the understanding of CFHR gene function in kidney diseases.
  • The study highlights the protective role of CFHR3/CFHR1 deletion in IgA nephropathy.

More Related Videos

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment07:26

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment

Published on: July 18, 2017

Related Concept Videos

Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Cytomegalovirus Disease01:27

Cytomegalovirus Disease

Cytomegalovirus (CMV) disease is caused by human cytomegalovirus, a double-stranded DNA virus of the Herpesviridae family. While primary CMV infection is often asymptomatic in immunocompetent individuals, the virus can cause severe disease in neonates and immunocompromised patients. CMV is the most common cause of congenital viral infection in the United States, and a major pathogen in solid organ and hematopoietic stem cell transplant recipients.CMV is transmitted via bodily fluids, sexual...
Genetic Lingo01:11

Genetic Lingo

Overview
Mutations01:39

Mutations

Overview