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closeMolecular genetics and autism
Posted by Chapouthier on 29 Jul 2012 at 09:43 GMT
The homeobox transcription factor « Engrailed 2 » (En2) is an interesting patterning gene, involved in several traits of the early development of brain and cerebellum and which, in human subjects, has been associated with autism. In this very original article, the authors studied the behavioral patterns of En2 knockout mice. They discover that the “En2 null mutants exhibited robust deficits in reciprocal social interactions as juveniles and
adults, and absence of sociability in adults”. Furthermore several behavioral impairments were observed in cognitive tasks such as fear conditioning or water maze learning, as well as in motor coordination and behavior. Similarities between wild and mutant subjects in general physiological measures suggested that “the behavioral abnormalities detected in En2 null mutants were not attributable to physical or procedural confounds”. The authors thus suggest that “En2 signaling may contribute to neuropsychiatric disorders”, including, at least, some forms of autism.