New Study Examines Central Nervous System Metabolism in Autism, Epilepsy, and Developmental Delays

July 18, 2022

Research Utilized Cerebrospinal Fluid to Identify Similarities and Differences Between Conditions

A group of researchers from Arizona recently set out to study the metabolic profiles of three neurodevelopmental disorders: autism spectrum disorder (ASD), epilepsy (EPI), and developmental delays (DD). The team conducted their research by examining the cerebral spinal fluid (CSF) of children with these disorders using linear regression and metabolite-metabolite pathway analysis. The study’s authors discovered that energy and amino acid pathways were commonly disrupted in all three conditions. Yet, redox pathways were more disrupted in ASD, and more disrupted in vitamin and one-carbon pathways in DD and EPI. At the same time, lipid pathways were more disrupted in EPI. Even though these three disorders shared some pathways, the major core nodes driving metabolic disruption were different for each condition. For instance, L-cysteine, adenine, and dodecanoic were the major core nodes for ASD. In comparison, the major node for EPI was nicotinamide adenine dinucleotide phosphate (NADP). For DD, adenosine triphosphate (ATP) was the major node, with several smaller nodes, including L-glutamine, L-cysteine, citrulline L-lysine, L-arginine, and ornithine. Interestingly, two microbiome metabolites were found in significant concentrations in CSF: shikimic acid and cis-cis-muconic acid. Shikimic acid was associated with children with ASD. Cis-cis-muconic acid was related to children with EPI. In the future, the study’s authors would like to see additional research using larger sample sizes along with simultaneous blood, urine, and stool samples of subjects to better understand how systematic and microbiome changes in metabolism can be transmitted to the CSF, possibly affecting brain function. 

Original Study

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