Related Experiment Video

Updated: Apr 16, 2026

High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
07:26

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

12.3K

Familial C3 glomerulonephritis associated with mutations in the gene for complement factor B

Hideaki Imamura1, Takao Konomoto1, Etsuko Tanaka2

  • 1Division of Pediatrics, Department of Reproductive and Developmental Medicine, Faculty of Medicine, University of Miyazaki, Miyazaki, Japan Department of Molecular Pathogenesis, National Cerebral and Cardiovascular Center, Osaka, Japan.

Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association
|March 12, 2015
PubMed

Insights

Familial C3 glomerulonephritis (C3GN) is linked to complement factor B (CFB) gene mutations. This discovery offers new avenues for anticomplement therapies in treating kidney disease.

Area of Science:

  • Nephrology
  • Genetics
  • Immunology

Background:

  • C3 glomerulonephritis (C3GN) is a rare kidney disease characterized by complement system dysregulation.
  • Familial cases of C3GN suggest a genetic predisposition, but specific causative genes remain largely unidentified.

Observation:

  • A 12-year-old girl presented with biopsy-proven C3GN.
  • Her family history revealed a mother treated for membranoproliferative glomerulonephritis and a brother with hypocomplementemia.
  • Genetic analysis identified a novel mutation in the complement factor B (CFB) gene (p.S367R) in all affected family members.

Findings:

  • The identified CFB p.S367R mutation was found to have gain-of-function effects.
  • This mutation is associated with the development of C3GN in a familial context.
  • The study establishes a direct link between CFB mutations and C3GN pathogenesis.

Implications:

  • Complement factor B (CFB) plays a critical role in the etiology of C3GN.
  • This finding provides a new genetic basis for understanding familial C3GN.
  • The results offer novel insights for developing targeted anticomplement therapies for C3GN and related kidney disorders.

Keywords:
C3 glomerulonephritiscomplement alternative pathwaycomplement factor Bgenetic mutation

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

4.4K
Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model05:12

Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model

Published on: September 4, 2017

11.4K

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...
13.1K
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,...
1.1K
Mutations01:39

Mutations

Overview
98.4K
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...
62
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...
801
Hypersensitivity Reactions: Immune-Complex Reactions01:19

Hypersensitivity Reactions: Immune-Complex Reactions

Type III hypersensitivity reactions occur when antigen–antibody complexes form and activate the complement system. Normally, these complexes help the clearance of antigens by phagocytes and red blood cells. However, when large numbers of immune complexes are present, they can deposit in tissues—particularly in the walls of blood vessels—leading to inflammation and tissue injury. These deposits trigger complement activation and neutrophil recruitment, resulting in serum...
218