[Autism, chromosome 15 and the GAbaergic dysfunction hypothesis].
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 beta3, alpha5 and gamma3 subunits of the GABAA receptor are located. This review demonstrates evidence that involves this region in autism susceptibility and its likely relation with the hypothesis of GABAergic dysfunction.
Solís-Añez
Ernesto
E
Unidad de Genética Médica, Facultad de Medicina, Universidad del Zulia, Maracaibo, Venezuela.
Delgado-Luengo
Wilmer
W
Hernández
María Luisa
ML
D017204:Angelman Syndrome / Q000235:genetics; D000818:Animals; D001321:Autistic Disorder / Q000235:genetics* / Q000503:physiopathology; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D004200:Diseases in Twins / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D051379:Mice; D018345:Mice, Knockout; D008954:Models, Biological; D009154:Mutation; D021122:Protein Subunits; D011963:Receptors, GABA-A / Q000737:chemistry / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D005680:gamma-Aminobutyric Acid / Q000502:physiology*
C527986:GABRA5 protein, human; C546273:GABRB3 protein, human; C527987:GABRG3 protein, human; C546270:Gabrb3 protein, mouse; D021122:Protein Subunits; D011963:Receptors, GABA-A; D005680:gamma-Aminobutyric Acid