Related Experiment Video

Updated: Mar 10, 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

Complement Dysregulation and Disease: Insights from Contemporary Genetics

M Kathryn Liszewski1, Anuja Java2, Elizabeth C Schramm3

  • 1Division of Rheumatology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, Missouri 63110;

Annual Review of Pathology
|December 14, 2016
PubMed

Insights

Dysregulation of the complement system

Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • The vertebrate complement system is a crucial part of innate immunity, involving numerous proteins and three activation pathways.
  • Complement system overactivity, particularly the alternative pathway, is linked to serious human diseases.
  • Genetic variations in complement inhibitors are increasingly recognized as disease-causing factors.

Purpose of the Study:

  • To review the role of complement system dysregulation in human diseases.
  • To explore the connection between genetic variations in complement inhibitors and disease pathogenesis.
  • To highlight the alternative pathway's involvement in atypical hemolytic uremic syndrome and age-related macular degeneration.

Main Methods:

  • Review of contemporary genetic studies.
  • Analysis of the complement system's activation and regulatory pathways.
  • Correlation of genetic variations with disease phenotypes.

Main Results:

  • Variations in complement inhibitors predispose individuals to atypical hemolytic uremic syndrome and age-related macular degeneration.
  • Both diseases share a common mechanism of alternative pathway overactivation.
  • Genetics provides insights into how complement dysregulation leads to these pathologies.

Conclusions:

  • The complement system's alternative pathway is a key player in the pathogenesis of atypical hemolytic uremic syndrome and age-related macular degeneration.
  • Understanding the genetic basis of complement dysregulation is vital for developing targeted therapies.
  • This review underscores the link between innate immunity defects and complex human diseases.

Keywords:
C3C3 glomerulopathiesCD46age-related macular degenerationalternative complement pathwayatypical hemolytic uremic syndromefactor Bfactor Hfactor I

More Related Videos

In Vivo Modeling of the Morbid Human Genome using Danio rerio12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

21.4K
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

8.9K

Related Concept Videos

Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
57
Human Genetics01:28

Human 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...
1.8K
Complementation Tests00:49

Complementation Tests

A complementation test is a simple cross to identify whether the two mutations are located on the same gene or different genes. It was first performed by Edward Lewis in the 1940s while working on fruit flies. He developed the test to identify the location and arrangement of different mutations on chromosomes.
Organisms heterozygous for different mutations are crossed pairwise in all combinations. If present on different genes, the mutations can complement each other by providing the missing...
6.4K
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
31.6K
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
16.4K
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
106