Resumo

SOLIS-ANEZ, Ernesto; DELGADO-LUENGO, Wilmer  e  HERNANDEZ, María Luisa. Autism, chromosome 15 and the GABAergic dysfunction hypothesis. Invest. clín [online]. 2007, vol.48, n.4, pp.529-541. ISSN 0535-5133.

Autism is a complex neurodevelopmental disorder characterized by impairment of social interaction, language, communication, and stereotyped, repetitive behavior. Genetic predisposition to autism has been demonstrated from families and twin studies. Despite recent advances in identifying some susceptibility candidate genes, its underlying neurological mechanism is uncertain. There are genetic, biochemical and neuropathological findings that support the hypothesis that autism could be caused by GABAergic dysfunction and it is partially responsible for the etiology of this disorder. One of the most studied genome regions is the 15q11-q13, where the genes that encode for β3, α5 and γ3 subunits of the GABA_A receptor are located. This review demonstrates evidence that involves this region in autism susceptibility and its likely relation with the hypothesis of GABAergic dysfunction.

Palavras-chave : Autism; 15q11-q13; GABA.

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