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Órgano Oficial del Instituto Nacional de Pediatría

2010, Number 1

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Acta Pediatr Mex 2010; 31 (1)

Genetic basis of autism

Álvarez I, Camacho-Arroyo I

Language: Spanish
References: 25
Page: 22-28
PDF size: 416.63 Kb.


ABSTRACT

Autism is a nerurodevelopmental disorder of unknown etiology with a prevalence of 1 per 1,000 children. Patients with autism are characterized by impairment in social interaction, verbal and nonverbal communication and behavior. There are convincing data indicating involvement of several genes in the development of autism. Recent genetic linkage studies identified variations that appear to increase the risk of autism; some of them located in chromosomes 2q, 7q and 17q. Recent studies identified a strong association between autism and changes in several genes such as: 1) polymorphism in the SLC25A12 (solute carrier family 25 member 12) gene locus in chromosome 2q31.1, a gene encoding the mitochondrial aspartate/glutamate carrier, which resides in the mitochondrial inner membrane; 2) the gene reelin (RELN) located in chromosome 7q22, RELN encodes a protein which plays a significant role in the migration of several neuronal cell types and in the development of neural connections and variations; and 3) gene SLC6A4 (solute carrier family 6 member 4), located in chromosome 17q which encodes a serotonin transporter; this gene shows a polymorphism, in the HTTLPR locus which modulates its expression, and is present in a significant number of autistic patients with elevated blood serotonin levels. Currently there is relevant information which supports a genetic basis of autism with a complex hereditary pattern involving multiple genes.


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