| Texto completo | |
| Autor(es): |
Marega, Lia Furlaneto
;
Teocchi, Marcelo Ananias
;
dos Santos Vilela, Maria Marluce
Número total de Autores: 3
|
| Tipo de documento: | Artigo Científico |
| Fonte: | CLINICAL AND EXPERIMENTAL IMMUNOLOGY; v. 185, n. 2, p. 148-153, AUG 2016. |
| Citações Web of Science: | 3 |
| Resumo | |
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. (AU) | |
| Processo FAPESP: | 12/06194-9 - Abordagem funcional, molecular e histopatológica de síndrome linfoproliferativa e autoimunidade como manifestação de imunodeficiência primária |
| Beneficiário: | Maria Marluce dos Santos Vilela |
| Modalidade de apoio: | Auxílio à Pesquisa - Regular |