Identification of the Gene for Scleroderma in the Tsk/2 Mouse Strain: Implications for Human Scleroderma Pathogenesis and Subset Distinctions

Abstract

This project focuses on an animal model of the human disease, systemic sclerosis (SSc), called Tsk2/+. The SSc like traits in Tsk2/+ heterozygotes are highly penetrant. In addition to a readily apparent skin fibrosis resulting from ECM anomalies, Tsk2/+ mice show autoimmune and inflammatory features that closely resemble human SSc features, making it useful as a pre clinical model. In this report, we show a clear time dependence on the gene expression in the skin of the Tsk2/+ mice. We have proven that Col3a1 is the gene that causes Tsk2/+ fibrosis, and have confirmed the sequence difference between Tsk2/+ and the parent strain, 101. We present preliminary results on the expression of TGF dependent mRNA signatures from Tsk2/+ and WT littermates that suggest the mechanism for the fibrosis is related to the up regulation of TGF signatures seen in the mutant strain. We show that Col3A1 fibers are altered in aged Tsk2/+ mice.

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Document Details

Document Type
Technical Report
Publication Date
Jul 01, 2013
Accession Number
ADA589919

Entities

People

  • Michael L. Whitfield

Organizations

  • Dartmouth College

Tags

DTIC Thesaurus Topics

  • Cells
  • Collagen
  • Connective Tissue
  • Department Of Defense
  • Diseases And Disorders
  • Fibrosis
  • Gene Expression
  • Genes
  • Genetic Phenomena
  • Genetic Variation
  • Genetics
  • Genome
  • Heterogeneous Conditions
  • Proteins
  • Sclerosis
  • Sequences
  • Tissues

Fields of Study

  • Biology

Readers

  • Immunology and Pathology
  • Infectious Disease/Epidemiology
  • Molecular and genetic basis of cancer.