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

• Grant number: 14/17061-5
• Support Opportunities: Regular Research Grants - Publications - Scientific article
• Start date: November 01, 2014
• End date: April 30, 2015
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Erika Cristina Pavarino
• Grantee: Erika Cristina Pavarino
• Host Institution: Faculdade de Medicina de São José do Rio Preto (FAMERP). Secretaria de Desenvolvimento Econômico (São Paulo - Estado). São José do Rio Preto , SP, Brazil

Abstract

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. (AU)

Scientific publications

(References retrieved automatically from Web of Science and SciELO through information on FAPESP grants and their corresponding numbers as mentioned in the publications by the authors)

ZAMPIERI, BRUNA LANCIA; BISELLI-PERICO, JOICE MATOS; SANTANA DE SOUZA, JORGE ESTEFANO; BUERGER, MATHEUS CARVALHO; SILVA JUNIOR, WILSON ARAUJO; GOLONI-BERTOLLO, ENY MARIA; PAVARINO, ERIKA CRISTINA. Altered Expression of Immune-Related Genes in Children with Down Syndrome. PLoS One, v. 9, n. 9, SEP 15 2014. (10/00153-3, 14/17061-5)