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Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS

Lia Furlaneto Marega1, Marcelo Ananias Teocchi1, Maria Marluce Dos Santos Vilela1

  • 1Laboratory of Pediatric Immunology, Center for Investigation in Pediatrics, Faculty of Medical Sciences, University of Campinas - UNICAMP, Campinas, SP, Brazil.

Clinical and Experimental Immunology
|April 10, 2016
PubMed

Insights

This study reveals microRNAs (miRNAs) play a role in autoimmune lymphoproliferative syndrome (ALPS) with FAS mutations. miR-21-3p over-expression in the son correlates with ALPS-FAS, suggesting its critical role in disease development.

Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • Autoimmune lymphoproliferative syndrome (ALPS) is often caused by inherited defects in FAS pathway apoptosis genes.
  • MicroRNAs (miRNAs) are regulatory RNAs influencing gene expression, but their role in ALPS is unexplored.

Observation:

  • A mother and son with the same FAS mutation showed differing ALPS-FAS severity.
  • The son, exhibiting ALPS-FAS symptoms, had significantly over-expressed miR-21-3p in peripheral blood mononuclear cells (PBMCs).
  • The mother, asymptomatic, showed slight under-expression of miR-146a and miR-21-3p, with up-regulated FAS expression.

Findings:

  • miR-21-3p over-expression in the son suggests a critical role in ALPS-FAS pathogenesis.
  • The miR-146a/FAS axis may influence ALPS-FAS variable expressivity, with potential compensation in the asymptomatic mother.
  • FASLG expression remained unchanged in both individuals.

Implications:

  • miR-21-3p warrants further investigation for its role in ALPS-FAS and associated lymphoma development.
  • Understanding miRNA involvement could lead to novel ALPS diagnostic and therapeutic strategies.
  • This research highlights the complex interplay between genetic mutations, miRNA regulation, and disease manifestation in ALPS.
Keywords:
apoptosisgene expression regulationimmunologic deficiency syndromes

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