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Analysis of genes involved in neurotransmission, formation and maintenance synaptic in individuals with Autism Spectrum Disorders

Grant number: 10/14943-6
Support Opportunities:Scholarships in Brazil - Doctorate
Effective date (Start): November 01, 2010
Effective date (End): February 28, 2014
Field of knowledge:Health Sciences - Medicine - Psychiatry
Principal Investigator:Agnes Cristina Fett Conte
Grantee:Ana Luiza Bossolani Martins
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


Diseases of the autism spectrum including Autism, Pervasive Developmental Disorder Not Otherwise Specified, and Asperger syndrome. The etiology is much debated due to its variation and complexity. These are disorders that are manifested in the first three years of life, characterized by ritualistic behavior, speech, absent or poorly developed, and serious problems of social relationships and mental retardation in most cases. According to epidemiology data world, these diseases affect about 1:150 individuals. In Brazil, based on this prevalence and the last census conducted in the country, it is estimated about 500,000 affected, emphasizing the importance of studies in this area. In 5-37% of cases is observed association with other diseases of genetic or environmental etiology. In individuals with such diseases have been described changes in all chromosomes and genes proposed as candidates for being involved in 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 in synaptic formation and maintenance. This project intends to investigate these genes by the methodology of MLPA (Multiplex Ligation-dependent Probe Amplification) in individuals with autistic spectrum disorders. About 100 individuals will be evaluated for the presence of CNVs in selected genes, and a control group with the same number of individuals. In cases that are experiencing changes, their presence will also be studied in their parents. This study may contribute to clarifying the etiology of these diseases, which is unknown.

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Academic Publications
(References retrieved automatically from State of São Paulo Research Institutions)
MARTINS, Ana Luiza Bossolani. Análise de genes envolvidos na neurotransmissão, formação e manutenção sináptica em indivíduos com transtornos do espectro do Autismo. 2014. Doctoral Thesis - Universidade Estadual Paulista (Unesp). Instituto de Biociências Letras e Ciências Exatas. São José do Rio Preto São José do Rio Preto.

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