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Related Experiment Videos

Genetic studies in systemic autoimmunity and aging.

D H Kono1, A N Theofilopoulos

  • 1Department of Immunology, The Scripps Research Institute, La Jolla, CA 92037, USA. dkono@scripps.edu

Immunologic Research
|June 14, 2000
PubMed
Summary
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Increased expression of the FoxP3 functional marker of regulatory T cells following B cell depletion with rituximab in patients with lupus nephritis.

Clinical immunology (Orlando, Fla.)·2007

Researchers identified genetic loci linked to systemic lupus erythematosus susceptibility in mice, providing a foundation for understanding disease pathogenesis. Further studies aim to pinpoint specific genes and explore cell-cycle regulation in autoimmunity.

Area of Science:

  • Immunology
  • Genetics
  • Autoimmunity

Background:

  • The genetic basis of systemic lupus erythematosus (SLE) pathogenesis is not fully understood.
  • Identifying susceptibility loci is crucial for unraveling disease mechanisms.

Purpose of the Study:

  • To identify and characterize genetic loci predisposing to SLE traits in mouse models.
  • To investigate the role of cell-cycle and apoptosis genes in systemic autoimmunity and aging.
  • To explore the T cell receptor repertoire and HIV-affected cellular genes in disease.

Main Methods:

  • Genome-wide searches in lupus-susceptible mouse strains.
  • Characterization of predisposing genetic loci.
  • Study of interval-specific congenic lines for precise gene mapping.

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  • Investigation of cell-cycle and apoptosis genes.
  • Analysis of T cell receptor repertoire and HIV-associated cellular genes.

    • Main Results:

    • Identified and characterized genetic loci associated with specific SLE disease traits in four major mouse strains.
    • Provided a foundation for defining the genetic basis of SLE susceptibility.
    • Proposed that replicative senescence may underlie memory phenotype cell overexpansion in autoimmunity and aging.

    Conclusions:

    • Genetic loci predisposing to SLE have been identified in mouse models, paving the way for gene discovery.
    • Understanding cell-cycle regulation and senescence is important for systemic autoimmunity.
    • Further research into T cell receptor repertoire and HIV infection's effects on cellular genes is ongoing.