Biomarker-Guided Strategy for Treatment of Autism Spectrum Disorder (ASD)
Jed W. Fahey.
Autism spectrum disorder (ASD) is a complex, life-long neurodevelopmental disorder currently affecting an estimated
1 out of 68 among children aged 8 y in the United States. ASD has complex genetic and epigenetic features that
lead to the phenotype and there is no single genetic marker for the diagnosis. Therefore, the diagnosis for ASD is phenotype-
based with no validated or credible laboratory tests available. Evidence-based treatments for ASD are limited. There
is no FDA approved medical therapy that addresses either core ASD symptoms or pathophysiological processes associated
with ASD. We outline herein, several ASD-associated basic physiological pathways that can be regulated by the
small molecule phytochemical sulforaphane, as an example of a druggable small molecule target for which much in vitro,
pre-clinical, and clinical evidence already exists: (1) redox metabolism/oxidative stress, (2) mitochondrial dysfunction, (3)
immune dysregulation/neuroinflammation, (4) febrile illness and the heat shock response, and (5) synaptic dysfunction.
Furthermore, we identify the biomarkers that can be used to assess the functioning of these pathways as well as suggesting
how these biomarkers could guide novel treatment strategies to correct these biochemical abnormalities in order to improve
core and associated symptoms of ASD.
Keywords: Heat shock response, mitochondrial dysfunction, neuroinflammation, oxidative stress, sulforaphane, synaptic
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