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2013, Number 1

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Revista del Hospital Psiquiátrico de La Habana 2013; 10 (1)

Autism spectrum disorders and epigenetic

Quintana HD, Lantigua CPA

Language: Spanish
References: 55
Page:
PDF size: 124.22 Kb.


ABSTRACT

Introduction: the autism spectrum disorders (ASD) comprise a complex group of behaviorally related disorders that are primarily genetic in origin, characterized for deterioration in the areas of social interaction, communication and stereotyped and repetitive behavior. Involvement of epigenetic regulatory mechanisms in the pathogenesis of ASD has been suggested by the occurrence of ASD in patients with disorders arising from epigenetic mutations or that involve key epigenetic regulatory factors.
Objective: evidencing the role that the epigenetic mechanisms represent in the susceptibility to the autism spectrum disorders.
Methods: the search was realized in PubMed/MEDLINE in publications of last 10 years, being used only items with links to free full text and novel information about the topic.
Development: Moreover, the most common recurrent cytogenetic abnormalities in ASD involve maternally derived duplications of the imprinted domain on chromosome 15q11–13 and deletions in 7q. Thus, parent of origin effects on sharing and linkage to imprinted regions suggest that these regions warrant specific examination from an epigenetic perspective, that also has been described in another diseases originated by genetic disorders in the X chromosome. In this actualizations about genesis of the upsets of the ASD presents a bringing up to date that evidences the importance of the epigenetic in itself.
Conclusions: To sorrow of recent advances in the identification of genes candidates of susceptibility to autism, the neurological subjacent base is still unknown, where epigenetic findings at critical regions of the genomic go putting on the right road the future.


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