Inflammatory markers in Down Syndrome: gene expression and functional analysis

• Grant number: 18/09126-0
• Support Opportunities: Regular Research Grants
• Duration: November 01, 2018 - July 31, 2021
• 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
• Associated researchers: Eny Maria Goloni Bertollo ; Geraldo Aleixo da Silva Passos Júnior ; Joice Matos Biselli Périco
• Associated scholarship(s): 20/03784-6 - Functional analysis of miRNAs and gene and protein expression, BP.TT; 18/23235-7 - Collection and preparation of RNA samples for the investigation of the gene expression involved in immunological and microRNA responses in children with Down Syndrome, BP.TT

Abstract

The intrinsically deficient immune system in Down syndrome (DS) may contribute to the increased susceptibility to infections related to the main causes of hospitalization and death of these individuals and also seems to favor neurodegenerative processes like Alzheimer's Disease. Chromosome 21 trisomy can cause global changes in gene expression, including those not located on chromosome 21, which regulate immunology/inflammatory processes and other physiological processes. Thus, knowledge about the expression profile of inflammation-related genes and microRNAs that possibly regulate these genes may contribute to the understanding of an important mechanism of gene expression control in an aneuploidy condition and to provide information for the understanding of the molecular bases of clinical manifestations of the syndrome. The aim of this project is to investigate the expression of CCR7, IKBKB and PLA2G2D genes involved in the immune/inflammatory response, and microRNAs hsa-miR-378a-3p, hsa-miR-942-5p and hsa-miR-668-3p, in silico predicted to regulate these genes, respectively, in peripheral blood mononuclear cells of individuals with DS (case group) and individuals without the syndrome (control group) and to perform functional analysis in peripheral mononuclear blood cells of DS individuals to validate the regulation of the genes by these microRNAs. (AU)