Related Experiment Video
Updated: Jul 12, 2026

09:43
Analyses of Proteinuria, Renal Infiltration of Leukocytes, and Renal Deposition of Proteins in Lupus-prone MRL/lpr Mice
Published on: June 8, 2022
SLE 1, 2, 3...genetic dissection of lupus
1Department of Internal Medicine, the Center for Immunology, University of Texas Southwestem Medical School, Dallas, TX, USA.
Advances in Experimental Medicine and Biology
|August 24, 2007
Summary
Systemic lupus erythematosus (SLE) involves breaches in adaptive and innate immunity. Understanding these genetic factors is key to developing targeted therapies for this complex autoimmune disease.
Area of Science:
- Immunology
- Genetics
- Autoimmune Diseases
Background:
- Systemic lupus erythematosus (SLE) is a chronic autoimmune condition with unknown causes.
- SLE is characterized by immune system abnormalities and damage to multiple organs.
- Recent advances highlight the role of genetic factors in SLE pathogenesis.
Purpose of the Study:
- To explore the genetic underpinnings of immune system dysregulation in SLE.
- To elucidate the distinct immunological events contributing to lupus development.
- To identify potential therapeutic targets by understanding SLE pathogenesis.
Main Methods:
- Genetic dissection of SLE patients.
- Analysis of adaptive and innate immune system checkpoints.
- Investigating the interplay between genetic loci and immune abnormalities.
Main Results:
- SLE pathogenesis involves at least two critical events.
- A breach in the adaptive immune system is one key event.
- Dysregulation of the innate immune system represents a second key event.
Conclusions:
- Coordinated dysregulation of both adaptive and innate immunity is essential for SLE.
- Further research is needed to understand checkpoint regulation in human SLE.
- Developing therapies targeting both immune checkpoints is a future challenge.
Related Concept Videos
Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Multiple Sclerosis l: Introduction
Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...
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...
GWAS does not require the identification of the target gene involved in...
Lethal Alleles
Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
