Abnormal Porphyrin Metabolism in Autism Spectrum Disorder and Therapeutic Implications

Indika, Neluwa-Liyanage R.; Senarathne, Udara D.; Malvaso, Antonio; Darshana, Dhanushka; Owens, Susan C.; Mansouri, Borhan; Semenova, Yuliya; Bjørklund, Geir

doi:10.1007/s12035-023-03722-z

Mol Neurobiol

2023

DOI: 10.1007/s12035-023-03722-z

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Abnormal Porphyrin Metabolism in Autism Spectrum Disorder and Therapeutic Implications

Neluwa-Liyanage R. Indika,

Udara D. Senarathne,

Antonio Malvaso

et al.

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2024

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Cited by 1 publication

References 146 publications

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Hypometabolism in Autism Spectrum Disorder: Insights from Brain and Blood Transcriptomics

Balasubramanian,

Saha,

Arun

et al. 2024

Preprint

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Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by challenges in social communication, repetitive behaviors, and restricted interests. Recent research has emphasized the importance of metabolic dysfunctions in the pathophysiology of ASD. This study investigates metabolic alterations associated with ASD by analyzing transcriptomic data obtained from the prefrontal cortex (bulk tissue and single-nucleus) and data from peripheral blood mononuclear cells (PBMC). We assessed the metabolic activity of each patient based on gene expression profiles, revealing significant downregulation of vital metabolic pathways, including glycolysis, the tricarboxylic acid (TCA) cycle, and oxidative phosphorylation, indicative of hypometabolism. Our analysis also highlighted dysregulation in lipid, vitamin, amino acid, and heme metabolism, which may contribute to the neurodevelopmental delays associated with ASD. Cell-specific metabolic activities in the ASD brain showed altered pathways in astrocytes, oligodendrocytes, excitatory neurons, and interneurons. Furthermore, we identified critical metabolic pathways and genes from PBMC gene expression data that distinguish ASD patients from typically developing individuals. Our findings demonstrate a consistent pattern of metabolic dysfunction across brain and blood samples. This research provides a comprehensive understanding of metabolic alterations in ASD, paving the way for exploring potential therapeutic strategies targeting metabolic dysregulation.

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Hypometabolism in Autism Spectrum Disorder: Insights from Brain and Blood Transcriptomics

Balasubramanian,

Saha,

Arun

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

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Abnormal Porphyrin Metabolism in Autism Spectrum Disorder and Therapeutic Implications

Cited by 1 publication

References 146 publications

Hypometabolism in Autism Spectrum Disorder: Insights from Brain and Blood Transcriptomics

Hypometabolism in Autism Spectrum Disorder: Insights from Brain and Blood Transcriptomics

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