Altered expression of immune-related genes in children with Down syndrome.

Individuals with Down syndrome (DS) have a high incidence of immunological alterations with increased susceptibility to bacterial and viral infections and high frequency of different types of hematologic malignancies and autoimmune disorders. In the current study, we profiled the expression pattern...

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Main Authors: Bruna Lancia Zampieri, Joice Matos Biselli-Périco, Jorge Estefano Santana de Souza, Matheus Carvalho Bürger, Wilson Araújo Silva Júnior, Eny Maria Goloni-Bertollo, Erika Cristina Pavarino
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4164533?pdf=render
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author Bruna Lancia Zampieri
Joice Matos Biselli-Périco
Jorge Estefano Santana de Souza
Matheus Carvalho Bürger
Wilson Araújo Silva Júnior
Eny Maria Goloni-Bertollo
Erika Cristina Pavarino
author_facet Bruna Lancia Zampieri
Joice Matos Biselli-Périco
Jorge Estefano Santana de Souza
Matheus Carvalho Bürger
Wilson Araújo Silva Júnior
Eny Maria Goloni-Bertollo
Erika Cristina Pavarino
author_sort Bruna Lancia Zampieri
collection DOAJ
description Individuals with Down syndrome (DS) have a high incidence of immunological alterations with increased susceptibility to bacterial and viral infections and high frequency of different types of hematologic malignancies and autoimmune disorders. In the current study, we profiled the expression pattern of 92 immune-related genes in peripheral blood mononuclear cells (PBMCs) of two different groups, children with DS and control children, to identify differentially expressed genes that might be of pathogenetic importance for the development and phenotype of the immunological alterations observed in individuals with DS. PBMCs samples were obtained from six DS individuals with karyotypically confirmed full trisomy 21 and six healthy control individuals (ages 2-6 years). Gene expression was profiled in duplicate according to the manufacturer's instructions provided by commercially available TaqMan Human Immune Array representing 92 immune function genes and four reference genes on a 96-plex gene card. A set of 17 differentially expressed genes, not located on chromosome 21 (HSA21), involved in immune and inflammatory pathways was identified including 13 genes (BCL2, CCL3, CCR7, CD19, CD28, CD40, CD40LG, CD80, EDN1, IKBKB, IL6, NOS2 and SKI) significantly down-regulated and four genes (BCL2L1, CCR2, CCR5 and IL10) significantly up-regulated in children with DS. These findings highlight a list of candidate genes for further investigation into the molecular mechanism underlying DS pathology and reinforce the secondary effects of the presence of a third copy of HSA21.
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spelling doaj.art-413fcb5bff8e4236b942847e99d8ac922022-12-22T01:31:41ZengPublic Library of Science (PLoS)PLoS ONE1932-62032014-01-0199e10721810.1371/journal.pone.0107218Altered expression of immune-related genes in children with Down syndrome.Bruna Lancia ZampieriJoice Matos Biselli-PéricoJorge Estefano Santana de SouzaMatheus Carvalho BürgerWilson Araújo Silva JúniorEny Maria Goloni-BertolloErika Cristina PavarinoIndividuals with Down syndrome (DS) have a high incidence of immunological alterations with increased susceptibility to bacterial and viral infections and high frequency of different types of hematologic malignancies and autoimmune disorders. In the current study, we profiled the expression pattern of 92 immune-related genes in peripheral blood mononuclear cells (PBMCs) of two different groups, children with DS and control children, to identify differentially expressed genes that might be of pathogenetic importance for the development and phenotype of the immunological alterations observed in individuals with DS. PBMCs samples were obtained from six DS individuals with karyotypically confirmed full trisomy 21 and six healthy control individuals (ages 2-6 years). Gene expression was profiled in duplicate according to the manufacturer's instructions provided by commercially available TaqMan Human Immune Array representing 92 immune function genes and four reference genes on a 96-plex gene card. A set of 17 differentially expressed genes, not located on chromosome 21 (HSA21), involved in immune and inflammatory pathways was identified including 13 genes (BCL2, CCL3, CCR7, CD19, CD28, CD40, CD40LG, CD80, EDN1, IKBKB, IL6, NOS2 and SKI) significantly down-regulated and four genes (BCL2L1, CCR2, CCR5 and IL10) significantly up-regulated in children with DS. These findings highlight a list of candidate genes for further investigation into the molecular mechanism underlying DS pathology and reinforce the secondary effects of the presence of a third copy of HSA21.http://europepmc.org/articles/PMC4164533?pdf=render
spellingShingle Bruna Lancia Zampieri
Joice Matos Biselli-Périco
Jorge Estefano Santana de Souza
Matheus Carvalho Bürger
Wilson Araújo Silva Júnior
Eny Maria Goloni-Bertollo
Erika Cristina Pavarino
Altered expression of immune-related genes in children with Down syndrome.
PLoS ONE
title Altered expression of immune-related genes in children with Down syndrome.
title_full Altered expression of immune-related genes in children with Down syndrome.
title_fullStr Altered expression of immune-related genes in children with Down syndrome.
title_full_unstemmed Altered expression of immune-related genes in children with Down syndrome.
title_short Altered expression of immune-related genes in children with Down syndrome.
title_sort altered expression of immune related genes in children with down syndrome
url http://europepmc.org/articles/PMC4164533?pdf=render
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