Expression of genes involved in the immune response and of micro-RNAs in Down syndrome children

• Grant number: 10/00153-3
• Support Opportunities: Regular Research Grants
• Start date: July 01, 2010
• End date: December 31, 2012
• 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

Down syndrome is the most frequent chromosomal disorder, with an incidence of 1:660 live births. The DS phenotype is complex and variable among the individuals, and it includes immunological alterations that results in an increased frequency of infection and auto-immune diseases. Since the finding that the DS results from the presence of a third copy of chromosome 21, several efforts have been made in attempting to elucidate the genes that are responsible for the development of the Down phenotype. The most recent gene catalogue of chromosome 21 includes more than 500 genes, of which five express microRNAs (miRNAs), that are non-coding RNA molecules involved on the pos-transcriptional gene regulation. The contribution of theses miRNAs on the phenotype of DS is poor investigated, however there are evidences that an alteration on their expression might be involved on the manifestations of the syndrome. The study of non-coding RNAs has become increasingly important for the comprehension of gene regulation, once they are involved on several biological processes. Regarding the immunological alterations, studies show that some genes involved on the immune system have altered expression in individuals with DS. Thus, the present project aim to investigate the pattern of miRNAs expression and of the genes involved on the immunological response in a group of children with DS and in a group of children without the syndrome, attempting to identify differences that might be related to the phonotypical manifestations of the DS. (AU)

Scientific publications

(4)

(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)

BISELLI, JOICE MATOS; ZAMPIERI, BRUNA LANCIA; MATOS BISELLI-CHICOTE, PATRICIA; SANTANA DE SOUZA, JORGE ESTEFANO; BURGER, MATHEUS CARVALHO; DA SILVA JR, WILSON ARAUJO; GOLONI-BERTOLLO, ENY MARIA; PAVARINO, ERIKA CRISTINA. Differential microRNA expression profile in blood of children with Down syndrome suggests a role in immunological dysfunction. HUMAN CELL, v. 35, n. 2, p. 10-pg., 2022-01-20. (10/00153-3)

SANTOS SILVA, CLAUDIA REGINA; BISELLI-PERICO, JOICE MATOS; ZAMPIERI, BRUNA LANCIA; SILVA, JR., WILSON ARAUJO; SANTANA DE SOUZA, JORGE ESTEFANO; BUERGER, MATHEUS CARVALHO; GOLONI-BERTOLLO, ENY MARIA; PAVARINO, ERIKA CRISTINA. Differential Expression of Inflammation-Related Genes in Children with Down Syndrome. Mediators of Inflammation, 2016. (10/00153-3)

SANTOS SILVA, CLAUDIA REGINA; BISELLI-PERICO, JOICE MATOS; ZAMPIERI, BRUNA LANCIA; SILVA, WILSON ARAUJO, JR.; SANTANA DE SOUZA, JORGE ESTEFANO; BUERGER, MATHEUS CARVALHO; GOLONI-BERTOLLO, ENY MARIA; PAVARINO, ERIKA CRISTINA. Differential Expression of Inflammation-Related Genes in Children with Down Syndrome. Mediators of Inflammation, v. 2016, p. 8-pg., 2016-01-01. (10/00153-3)