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Related Experiment Videos

Tn-syndrome.

E G Berger1

  • 1Institute of Physiology, University of Zurich, Switzerland. egberger@physiol.unizh.ch

Biochimica Et Biophysica Acta
|November 26, 1999
PubMed
Summary
This summary is machine-generated.

Idiopathic Tn-syndrome is a rare blood disorder where the Tn-antigen is expressed on all blood cells due to silenced beta1,3galactosyltransferase gene expression. Treatment can restore normal antigen expression and enzyme activity.

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Area of Science:

  • Hematology
  • Glycobiology
  • Molecular Biology

Background:

  • Idiopathic Tn-syndrome, previously known as permanent mixed-field polyagglutinability, is a rare hematological disorder.
  • It is characterized by the expression of the Tn-antigen, specifically terminal alpha-N-acetylgalactosamine, on all blood cell lineages.
  • Normally, this residue is modified to form the Thomsen-Friedenreich (TF) antigen.

Purpose of the Study:

  • To investigate the underlying cause of Tn-antigen exposure in idiopathic Tn-syndrome.
  • To explore potential therapeutic strategies for restoring normal antigen expression.

Main Methods:

  • Analysis of gene expression related to glycosyltransferases.
  • Treatment of deficient Tn(+) lymphocyte T clones with 5'azacytidine and Na butyrate.

Related Experiment Videos

  • Assessment of enzyme activity and antigen expression post-treatment.

    • Main Results:

    • The exposure of the Tn-antigen is linked to the silencing of beta1,3galactosyltransferase gene expression.
    • Treatment with 5'azacytidine or Na butyrate reactivated enzyme activity.
    • Restoration of the sialylated TF-antigen was observed following treatment.

    Conclusions:

    • Idiopathic Tn-syndrome results from the silencing of beta1,3galactosyltransferase.
    • The condition affects pluripotent stem cells, leading to variable expression across lineages.
    • Therapeutic interventions can potentially reverse the Tn-antigen phenotype.