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Type: Artigo
Title: Differential Regulation Of Mir-146a/fas And Mir-21/faslg Axes In Autoimmune Iymphoproliferative Syndrome Due To Fas Mutation (alps-fas)
Author: Marega
Lia Furlaneto; Teocchi
Marcelo Ananias; dos Santos Vilela
Maria Marluce
Abstract: Most cases of autoimmune lymphoproliferative syndrome (ALPS) have an inherited genetic defect involving apoptosis-related genes of the FAS pathway. MicroRNAs (miRNAs) are a class of small non-coding regulatory RNAs playing a role in the control of gene expression. This is the first report on miRNAs in ALPS patients. We studied a mother and son carrying the same FAS cell surface death receptor (FAS) mutation, but with only the son manifesting the signs and symptoms of ALPS-FAS. The aim was to analyse, by reverse transcription-quantitative polymerase chain reaction (RT-qPCR), the peripheral blood mononuclear cells (PBMC) relative expression of miR-146a and miR-21, including their passenger strands and respective targets (FAS and FASLG). In comparison with healthy matched control individuals, miR-21-3p was over-expressed significantly (P=00313) in the son, with no significant change in the expression of miR-146a, miR-146a-3p and miR-21. In contrast, the mother had a slight under-expression of the miR-146a pair and miR-21-3p (P=00625). Regarding the miRNA targets, FAS was up-regulated markedly for the mother (P=00078), but down-regulated for the son (P=00625), while FASLG did not have any significant alteration. Taken together, our finding clearly suggests a role of the miR-146a/FAS axis in ALPS-FAS variable expressivity in which FAS haploinsufficiency seems to be compensated only in the mother who had the miR-146a pair down-regulated. As only the son had the major clinical manifestations of ALPS-FAS, miR-21-3p should be investigated as playing a critical role in ALPS physiopathology, including the development of lymphoma.
Subject: Apoptosis
Gene Expression Regulation
Immunologic Deficiency Syndromes
Editor: Wiley-Blackwell
Citation: Clinical And Experimental Immunology. Wiley-blackwell, v. 185, p. 148 - 153, 2016.
Rights: fechado
Identifier DOI: 10.1111/cei.12800
Date Issue: 2016
Appears in Collections:Unicamp - Artigos e Outros Documentos

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