Jornal Brasileiro de Psiquiatria
Print version ISSN 0047-2085
MARIS, Angelica Francesca and TROTT, Alexis. The genetic and molecular pathogenesis of the Angelman syndrome. J. bras. psiquiatr. [online]. 2011, vol.60, n.4, pp. 321-330. ISSN 0047-2085. http://dx.doi.org/10.1590/S0047-20852011000400014.
Objective: The aim of this work is to provide an actualized review in Portuguese language of the main clinical and behavioral features and in particular of the genetic and molecular aspects of Angelman syndrome, a cause of severe intellectual disability, which in rare cases can be recurrent in the family. Method: This paper is a literature review that used as a source of research, scientific papers with the terms "Angelman syndrome" or combined with UBE3A, clinical, genetics, and molecular in their title, retrieved trough the PubMed database. Among those, mainly review articles and original papers about cellular and molecular aspects of the pathology were selected, prioritarily, those published in the last ten years. Results: The term Angelman syndrome retrieved about 1100 papers, including close to 240 review articles. During the last ten years there were over 600 publications, with approximately 120 reviews, 50% of whom published in the last five years. The SciELO database was also searched and nine publications about the syndrome were found, three of which in Portuguese and no recent review article. Conclusion: After being one of the main causes to attract attention and stimulate studies to unravel the mechanisms of the genetic imprinting, Angelman syndrome is again in the spotlight because it is revealing itself as pathology of synaptic dysfunction. Albeit still long from understood, the molecular and cellular alterations in Angelman syndrome are allowing an extraordinary insight into the mechanisms which control synaptic plasticity.
Keywords : Angelman syndrome; UBE3A; mental retardation; intellectual disability; genetic imprinting; synaptic dysfunction.