| Grant number: | 11/07833-2 |
| Support Opportunities: | Regular Research Grants |
| Start date: | October 01, 2011 |
| End date: | September 30, 2013 |
| Field of knowledge: | Health Sciences - Medicine - Psychiatry |
| Principal Investigator: | Agnes Cristina Fett Conte |
| Grantee: | Agnes Cristina Fett Conte |
| Host Institution: | Faculdade de Medicina de São José do Rio Preto (FAMERP). São José do Rio Preto , SP, Brazil |
| City of the host institution: | São José do Rio Preto |
| Associated researchers: | Eloiza Helena Tajara da Silva ; Maria Rita dos Santos e Passos Bueno |
Abstract
Autism Spectrum Disorders Diseases including Autism, Pervasive Developmental Disorder Not Otherwise Specified and Asperger Syndrome. The etiology is much debated due to its complexity and variation. These are disorders that are manifested in the first three years of life, characterized by ritualistic behavior, absent speech or poorly developed, and serious problems of social relationships and mental retardation in most cases. According to data from global epidemiology, these diseases affect approximately 1:150 individuals. In Brazil, prevalence based on this and the last census in the country, it is estimated around four millions of affected under 20 years old, emphasizing the importance of studies in this area. Can be observed association with other genetic diseases or environmental. The individuals with these diseases have been described changes in all chromosomes and genes proposed as candidates of being involved with the pathogenesis. There are several candidate genes or genomic regions that have mutations and copy number variations (CNVs), which have expression in the central nervous system. Among them are genes including UBE3A, GRM8, DLGAP2, NLGN3, NRXN1, NLGN4X, PIK3CB, PIP5K3, SHANK2 and PTEN involved in neurotransmission, synaptic formation and maintenance. This project aims to investigate these genes by the methodology of MLPA (Multiplex Ligation-dependent Probe Amplification) in individuals with autistic spectrum disorders. At least 300 individuals will be evaluated for the presence of CNVs in selected genes above. In case of change detection, it will be studied a control group with the same number of individuals and in the parents. This study may contribute to clarifying the etiology of these diseases. (AU)
| Articles published in Agência FAPESP Newsletter about the research grant: |
| More itemsLess items |
| TITULO |
| Articles published in other media outlets ( ): |
| More itemsLess items |
| VEICULO: TITULO (DATA) |
| VEICULO: TITULO (DATA) |