Cell modeling Autism Spectrum Disorder patients using induced pluripotent stem cells (iPSC)

Abstract

Studying autism biology is a challenge due to the lack of access to patients cells from the central nervous system (CNS). Autism spectrum disorder (ASD) is a neurodevelopmental disorder associated with high functional impairment, where patients exhibit behavioral changes as repetitive and ste-reotyped movements, communication deficits and socialization problems. The worldwide prevalence of ASD is very high, with about 1% of the world population. The diagnosis of ASD patients usually occurs at three years of age and is more common in boys. In 2007 a technology to generate pluripotent stem cells from human somatic cells (iPSC) was described by Takahashi & Yamanaka. This important tool, opened doors to generate cel-lular models to study disease in vitro. Our group has been carrying out idiopathic autism modeling in vitro, to identify and study some neuronal phenotypes. Among our preliminary results, we managed to get some data that led us to believe that not only neurons, but also astrocytes from CNS of patients with ASD represent a key role in the development of autistic phenotype. In general, glia are responsible for CNS maintenance, control neurogenesis, synaptogenesis support to make the maintenance of synapses and support and nutrition to neurons. According to our preliminary results, astrocytes from neurotypicals individuals (controls) were able to partially rescue the phenotype of neurons of patients with ASD. Based on these data, this project tends to investigate in vitro the role of astrocytes in the interaction with neurons in patients with ASD, seeking to identify possible relevant routes responsible for the autism phenotype. Still, with the transplantation of healthy astrocytes in animal models of autism, we plan to verify if is possible to change or even rescue the autistic phenotype in vivo. (AU)