Association between polymorphisms in genes involved in folate metabolism, DNA methylation and maternal risk for Down syndrome

• Grant number: 10/10771-6
• Support Opportunities: Regular Research Grants
• Start date: September 01, 2010
• End date: February 28, 2013
• 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

Abstract

Down syndrome (DS) is the most common human chromosomal disorder, and 95% of cases is attributed to free trisomy of chromosome 21 resulting from maternal non-disjunction. Studies suggest that the occurrence of SD independent of maternal age is associated with hypomethylation of centromeric DNA as a consequence of abnormal folate metabolism and genetic polymorphisms involved in this pathway have been identified as maternal risk factors for the syndrome. In addition to genetic polymorphisms, and deficiencies in micronutrients such as folate and vitamin B12, may alter the products of the folate metabolic pathway and result in DNA hypomethylation, genomic instability and decreased ability to repair DNA. Thus, this project aims to detect and compare the global content of DNA methylation between mothers of individuals with DS and mothers with children without the syndrome, and to evaluate the association between this variable with the genetic polymorphisms and levels of plasma Hcy and MMA and serum folate. (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)

MENDES, CRISTIANI CORTEZ; ZAMPIERI, BRUNA LANCIA; ARANTES, LIDIA MARIA REBOLHO BATISTA; MELENDEZ, MATIAS ELISEO; BISELLI, JOICE MATOS; CARVALHO, ANDRE LOPES; EBERLIN, MARCOS NOGUEIRA; RICCIO, MARIA FRANCESCA; VANNUCCHI, HELIO; CARVALHO, VALDEMIR MELECHCO; et al. One-carbon metabolism and global DNA methylation in mothers of individuals with Down syndrome. HUMAN CELL, AUG 2021. (10/10771-6)