Expression Profile of Circulating miRNAs in Autism Spectrum Disorders

Autism Spectrum Disorder (ASD) is a common disorder with an heterogeneous clinical presentation and unclear etiology. Rare, highly penetrant, variants explain approximately 20% of ASD genetic liability, while common genetic factors of low effect, which combine in affected individuals to reach a pathological threshold, have not yet been identified. Epigenetic factors may additionally modulate the effect of genetic variants. ASD overlaps with other Neurodevelopmental Disorders (NDD), both in clinical aspects and in causative genetic variants, frequently rendering specific diagnosis difficult1,5. Here we hypothesize that, while genetic variants overlap in a large extent between NDDs, epigenetic factors may regulate the expression, activity or function of genetic factors, leading to the characteristic phenotypic presentation that differentiates ASD from other NDDs. To test this hypothesis, we addressed the role of epigenetic factors in ASD, focusing on microRNAs (miRNAs). These small noncoding RNA molecules negatively regulate gene expression, influencing many biological processes and, because they are released from pathological tissues to plasma in disease situations, may constitute useful biomarkers. We thus profiled miRNAs in plasma from ASD patients and patients with other NDDs.

Palavras-chave

Perturbações do Desenvolvimento Infantil e Saúde Mental Autismo Autism Spectrum Disorders

URI

http://hdl.handle.net/10400.18/3502

Editora

Instituto Nacional de Saúde Doutor Ricardo Jorge, IP

Coleções

DPSPDNT - Posters/abstracts em congressos internacionais

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