Overlapping Molecular Pathways Leading to Autism Spectrum Disorders, Fragile X Syndrome, and Targeted Treatments
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Overlapping Molecular Pathways Leading to Autism Spectrum Disorders, Fragile X Syndrome, and Targeted Treatments Maria Jimena Salcedo-Arellano 1,2,3 & Ana Maria Cabal-Herrera 4 & Ruchi Harendra Punatar 1,3 & Courtney Jessica Clark 1,3 & Christopher Allen Romney 1,3 & Randi J Hagerman 1,3 Accepted: 4 November 2020 # The American Society for Experimental NeuroTherapeutics, Inc. 2020
Abstract Autism spectrum disorders (ASD) are subdivided into idiopathic (unknown) etiology and secondary, based on known etiology. There are hundreds of causes of ASD and most of them are genetic in origin or related to the interplay of genetic etiology and environmental toxicology. Approximately 30 to 50% of the etiologies can be identified when using a combination of available genetic testing. Many of these gene mutations are either core components of the Wnt signaling pathway or their modulators. The full mutation of the fragile X mental retardation 1 (FMR1) gene leads to fragile X syndrome (FXS), the most common cause of monogenic origin of ASD, accounting for ~ 2% of the cases. There is an overlap of molecular mechanisms in those with idiopathic ASD and those with FXS, an interaction between various signaling pathways is suggested during the development of the autistic brain. This review summarizes the cross talk between neurobiological pathways found in ASD and FXS. These signaling pathways are currently under evaluation to target specific treatments in search of the reversal of the molecular abnormalities found in both idiopathic ASD and FXS. Key Words Autism spectrum disorders . fragile X syndrome . targeted treatments . Wnt . retinoic acid . mTOR . ERK/MAPK . signaling cross talk . endocannabinoid system . neurodevelopmental disorders
Introduction Autism spectrum disorders (ASD) is a term used to diagnose a behavioral disorder seen in individuals presenting with a combination of severe difficulties in the areas of
Maria Jimena Salcedo-Arellano and Ana Maria Cabal-Herrera contributed equally to this work. * Maria Jimena Salcedo-Arellano [email protected] * Randi J Hagerman [email protected] 1
Department of Pediatrics, University of California Davis School of Medicine, Sacramento, CA 95817, USA
2
Department of Pathology and Laboratory Medicine, UC Davis School of Medicine, Sacramento, CA 95817, USA
3
Medical Investigation of Neurodevelopmental Disorders (MIND) Institute UCDHS, University of California Davis, 2825 50th Street, Sacramento, CA 95817, USA
4
Group on Congenital Malformations and Dysmorphology, Faculty of Health, Universidad del Valle, Cali 00000, Colombia
social communication, social interaction, and repetitive behaviors and movements. This condition currently affects 1.7% of children between 3 and 17 years of age in the USA [1]. Surveillance data from the Centers for Disease Control and Prevention (CDC) reported a prevalence of 1 in 54 children before 8 years of age in 2016. Currently, for every 4 boys, only 1 girl is diagnosed with ASD [2]. To meet the diagnostic criteria esta
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