Epigenetic alterations in autism spectrum disorders (ASD)
The aetiology of autism spectrum disorders (ASD), a group of neurodevelopmental conditions with early onset, characterized by social and communication impairment and restricted interests, is unknown in about a third of the patients. The intense research done over the past decade has revealed a genet...
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| Formato: | tesis doctoral |
| Estado: | Versión publicada |
| Fecha de publicación: | 2015 |
| País: | España |
| Recursos: | CBUC, CESCA |
| Repositorio: | TDR. Tesis Doctorales en Red |
| OAI Identifier: | oai:www.tdx.cat:10803/403885 |
| Acesso em linha: | http://hdl.handle.net/10803/403885 |
| Access Level: | acceso abierto |
| Palavra-chave: | Autism spectrum disorders Epigenetics Methylation ASD genetics RNA sequencing Trastorns de l'espectre autista Epigenètica Metilació Genètica dels TEA Seqüenciació d'ARN 616.89 |
| Resumo: | The aetiology of autism spectrum disorders (ASD), a group of neurodevelopmental conditions with early onset, characterized by social and communication impairment and restricted interests, is unknown in about a third of the patients. The intense research done over the past decade has revealed a genetic contribution, while the epigenetic contribution barely begins to show. The epigenetic marks can exert an effect in gene expression without altering the underlying genetic sequence. In turn, these marks can be impaired by genetic mutations in their target sequence. Therefore, research in genomic, epigenomic and transcriptomic fields will provide convergent information to unravel the causes of ASD, necessary to establish improved diagnostic protocols and therapeutic strategies, allowing an earlier diagnosis and personalized treatment crucial for a better prognosis. Our data reveal variants associated to the phenotype which shows genetic-epigenetic interplay along with gene expression consequences. It also reveals region epigenetic variants, which follow a polygenic or complex model. Finally, we found ASD genotype-specific epigenetic marks. In the future, the progress in cost-efficiency technologies assessing epigenomics, and the availability of a reference epigenome in various tissues and cell types will provide the background to set a step-forward in establishing the developmental stage, cell types and tissues involved in the epigenetic mechanisms of the disorder. |
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