| Literature DB >> 25315683 |
John J McMahon1, Wilson Yu1, Jun Yang2, Haihua Feng1, Meghan Helm1, Elizabeth McMahon1, Xinjun Zhu2, Damian Shin1, Yunfei Huang3.
Abstract
Epilepsy and autism spectrum disorder (ASD) are common comorbidities of one another. Despite the prevalent correlation between the two disorders, few studies have been able to elucidate a mechanistic link. We demonstrate that forebrain specific Tsc1 deletion in mice causes epilepsy and autism-like behaviors, concomitant with disruption of 5-HT neurotransmission. We find that epileptiform activity propagates to the raphe nuclei, resulting in seizure-dependent hyperactivation of mTOR in 5-HT neurons. To dissect whether mTOR hyperactivity in 5-HT neurons alone was sufficient to recapitulate an autism-like phenotype we utilized Tsc1flox/flox;Slc6a4-cre mice, in which mTOR is restrictively hyperactivated in 5-HT neurons. Tsc1flox/flox;Slc6a4-cre mice displayed alterations of the 5-HT system and autism-like behaviors, without causing epilepsy. Rapamycin treatment in these mice was sufficient to rescue the phenotype. We conclude that the spread of seizure activity to the brainstem is capable of promoting hyperactivation of mTOR in the raphe nuclei, which in turn promotes autism-like behaviors. Thus our study provides a novel mechanism describing how epilepsy can contribute to the development of autism-like behaviors, suggesting new therapeutic strategies for autism.Entities:
Keywords: 5-HT; Autism; Epilepsy; TSC; mTOR
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Year: 2014 PMID: 25315683 PMCID: PMC4394017 DOI: 10.1016/j.nbd.2014.10.004
Source DB: PubMed Journal: Neurobiol Dis ISSN: 0969-9961 Impact factor: 5.996