Altered Expression of Immune-Related Genes in Children with Down Syndrome

Autor(es)

Zampieri, Bruna Lancia ^[1] ; Biselli-Perico, Joice Matos ^[1] ; Santana de Souza, Jorge Estefano ^{[2, 3, 4, 5, 6]} ; Buerger, Matheus Carvalho ^{[2, 3, 4, 5, 6]} ; Silva Junior, Wilson Araujo ^{[2, 3, 5, 6]} ; Goloni-Bertollo, Eny Maria ^[1] ; Pavarino, Erika Cristina ^[1]

Afiliação do(s) autor(es)

^[1] Fac Med Sao Jose Do Rio Preto FAMERP, Dept Biol Mol, Unidade Pesquisa Genet & Biol Mol, Sao Jose Do Rio Preto, SP - Brazil

^[2] Univ Sao Paulo, Dept Genet, Sao Paulo - Brazil

^[3] Univ Sao Paulo, Ribeirao Preto Med Sch, Sao Paulo - Brazil

^[4] Inst Bioinformat & Biotechnol 2bio, Sao Paulo - Brazil

^[5] Natl Inst Sci & Technol Stem Cell & Cell Therapy, Ribeirao Preto, SP - Brazil

^[6] Ctr Cell Based Therapy, Ribeirao Preto, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: PLoS One; v. 9, n. 9 SEP 15 2014.
• Citações Web of Science: 14
• Assunto(s): Linfócitos T Interleucina-10 Síndrome de Down

Resumo

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)

• Processo FAPESP: 10/00153-3 - Expressão de genes envolvidos na resposta imunológica e de micro-RNAs em crianças com síndrome de Down
• Beneficiário: Erika Cristina Pavarino
• Modalidade de apoio: Auxílio à Pesquisa - Regular
• Processo FAPESP: 11/06248-9 - Expressão de genes envolvidos na resposta imunológica e de micro-RNAs em crianças com síndrome de Down.
• Beneficiário: Tialfi Bergamin de Castro
• Modalidade de apoio: Bolsas no Brasil - Programa Capacitação - Treinamento Técnico
• Processo FAPESP: 14/17061-5 - Altered expression of immune-related genes in children with Down syndrome
• Beneficiário: Erika Cristina Pavarino
• Modalidade de apoio: Auxílio à Pesquisa - Publicações científicas - Artigo
• Processo FAPESP: 11/19787-5 - Expressão de genes envolvidos na resposta imunológica e de micro-RNAs em crianças com síndrome de Down.
• Beneficiário: Cláudia Regina dos Santos Silva
• Modalidade de apoio: Bolsas no Brasil - Programa Capacitação - Treinamento Técnico
• Processo FAPESP: 10/15151-6 - Expressão de genes envolvidos na resposta imunológica e de micro-RNAs em crianças com síndrome de Down.
• Beneficiário: Gabriela Martins Bueno
• Modalidade de apoio: Bolsas no Brasil - Programa Capacitação - Treinamento Técnico
• Processo FAPESP: 14/17013-0 - XLIII Congreso Argentino de Genética
• Beneficiário: Erika Cristina Pavarino
• Modalidade de apoio: Auxílio à Pesquisa - Reunião - Exterior