TY - JOUR
T1 - Overlapping Molecular Pathways Leading to Autism Spectrum Disorders, Fragile X Syndrome, and Targeted Treatments
AU - Salcedo-Arellano, Maria Jimena
AU - Cabal-Herrera, Ana Maria
AU - Punatar, Ruchi Harendra
AU - Clark, Courtney Jessica
AU - Romney, Christopher Allen
AU - Hagerman, Randi J.
N1 - Funding Information:
RJ Hagerman has received funding from Zynerba, Ovid, and the Azrieli Foundation for carrying out treatment studies in patients with fragile X syndrome (FXS). She has also consulted with Fulcrum, Ovid, and Zynerba regarding treatment studies in individuals with FXS.
Funding Information:
This research was supported by funds from the National Institute of Child Health and Human Development (NICHD) grant R01 HD036071, the Azrieli Foundation, and the MIND Institute Intellectual and Developmental Disabilities Research Center P50 HD103526.
PY - 2020
Y1 - 2020
N2 - 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.
AB - 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.
KW - Autism spectrum disorders
KW - endocannabinoid system
KW - ERK/MAPK
KW - fragile X syndrome
KW - mTOR
KW - neurodevelopmental disorders
KW - retinoic acid
KW - signaling cross talk
KW - targeted treatments
KW - Wnt
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U2 - 10.1007/s13311-020-00968-6
DO - 10.1007/s13311-020-00968-6
M3 - Article
AN - SCOPUS:85096328245
JO - Neurotherapeutics
JF - Neurotherapeutics
SN - 1933-7213
ER -