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Evaluation of the expression and associations between the IKBKB, PLA2G2D genes and miR-942-5p e miR-668-3p microRNAs in Down Syndrome

Grant number: 18/24825-2
Support Opportunities:Scholarships in Brazil - Doctorate
Effective date (Start): March 01, 2019
Effective date (End): February 28, 2022
Field of knowledge:Biological Sciences - Genetics - Human and Medical Genetics
Principal Investigator:Erika Cristina Pavarino
Grantee:Marlon Fraga Mattos
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


The intrinsically deficient immune system in Down's Syndrome (SD) possibly contributes to the increased susceptibility of infections, which are related to the main causes of hospitalization and death of these individuals and also seems to be involved in neurodegenerative processes such as the early manifestation of Alzheimer's disease. Chromosome 21 trisomy can cause global changes in gene expression, including those not located on chromosome 21, which regulate immune / inflammatory processes and other physiological processes. Knowledge of the expression profile of genes that regulate inflammatory processes and microRNAs, which possibly regulate these genes, may contribute to the understanding of an important mechanism of gene expression control in an aneuploidy condition and provide information for the understanding of the molecular basis of clinical manifestations of the syndrome. Thus, this project aims to investigate the expression pattern of the genes IKBKB and PLA2G2D, involved in the immune / inflammatory response, and hsa-miR-942-5p and hsa-miR-668-3p microRNAs, which have in silico association with these genes respectively in peripheral blood mononuclear cells of individuals with SD (case group) and in a control group without the syndrome and perform functional analysis in cell line of the microRNAs mentioned above to validate the hypothesis of association between microRNAs and genes studied. (AU)

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