Overexpression of LFA-1 and ICAM-1 in Down syndrome thymus. Implications for abnormal thymocyte maturation

M Murphy1, R M Insoft, L Pike-Nobile

  • 1Department of Pediatrics, University of California, San Francisco 94143.

Insights

Children with Down syndrome (DS) show increased expression of lymphocyte function-associated antigen 1 (LFA-1) and intercellular adhesion molecule 1 (ICAM-1) in their thymuses. This may explain abnormal thymocyte maturation and increased infection risk in DS individuals.

Area of Science:

  • Immunology
  • Developmental Biology
  • Human Genetics

Background:

  • Lymphocyte function-associated antigen 1 (LFA-1) and intercellular adhesion molecule 1 (ICAM-1) interactions are crucial for thymocyte maturation.
  • Down syndrome (DS), caused by trisomy 21, is linked to thymic abnormalities and increased infection susceptibility.
  • The LFA-1 beta-chain gene is on chromosome 21, suggesting potential overexpression in DS.

Purpose of the Study:

  • To investigate the constitutive expression of LFA-1 and ICAM-1 in human thymuses from children with Down syndrome.
  • To correlate adhesion molecule expression with thymocyte maturation defects observed in DS.

Main Methods:

  • Immunofluorescence and flow cytometry were used to evaluate LFA-1 alpha and beta chain expression on thymocytes.
  • Immunohistochemical analysis and quantitative video imaging assessed ICAM-1 expression on thymic stromal cells.
  • Expression levels were compared between DS and age-matched control thymuses.

Main Results:

  • DS thymocytes exhibited significantly higher mean fluorescence for both LFA-1 beta and alpha chains.
  • DS thymuses displayed nearly twofold higher levels of ICAM-1 expression compared to controls.
  • ICAM-1 showed a diffuse staining pattern in DS thymuses, with poor demarcation at cortico-medullary junctions.

Conclusions:

  • Increased expression of LFA-1 and ICAM-1 in DS thymuses suggests a role for these adhesion molecules in abnormal thymocyte development.
  • Elevated IFN-gamma and TNF levels in DS thymuses likely contribute to enhanced ICAM-1 expression.
  • Altered adhesion molecule expression and distribution in DS thymuses disrupt thymocyte-stroma interactions, leading to impaired maturation.