Profiling plasma levels of thiamine and histamine in Jordanian children with autism spectrum disorder (ASD): potential biomarkers for evaluation of ASD therapies and diet

Rashaid, Ayat Hussein B.; Alqhazo, Mazin; Nusair, Shreen Deeb; Adams, James B.; Bashtawi, Mahmoud; Al-Fawares, O’la

doi:10.1080/1028415x.2022.2101976

Cited by 5 publications

(2 citation statements)

References 37 publications

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“…Histamine, a pivotal neurotransmitter, has been implicated in neurological disorders ( Nuutinen and Panula, 2010 ; Scammell et al, 2019 ), including ASD ( Fernandez et al, 2012 ; Wright et al, 2017 ). Previous research has highlighted elevated blood histamine levels in children diagnosed with ASD ( Rashaid et al, 2022 ). The effects of histamine primarily occur through its interaction with various histamine receptors, notably H1R, H2R, H3R, and H4R.…”

Section: Discussionmentioning

confidence: 99%

Microbiota profiling reveals alteration of gut microbial neurotransmitters in a mouse model of autism-associated 16p11.2 microduplication

Fu,

Yang,

Jiang

et al. 2024

Front. Microbiol.

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The gut-brain axis is evident in modulating neuropsychiatric diseases including autism spectrum disorder (ASD). Chromosomal 16p11.2 microduplication 16p11.2dp/+ is among the most prevalent genetic copy number variations (CNV) linked with ASD. However, the implications of gut microbiota status underlying the development of ASD-like impairments induced by 16p11.2dp/+ remains unclear. To address this, we initially investigated a mouse model of 16p11.2dp/+, which exhibits social novelty deficit and repetitive behavior characteristic of ASD. Subsequently, we conducted a comparative analysis of the gut microbial community and metabolomic profiles between 16p11.2dp/+ and their wild-type counterparts using 16S rRNA sequencing and liquid chromatography-mass spectrometry (LC/MS). Our microbiota analysis revealed structural dysbiosis in 16p11.2dp/+ mice, characterized by reduced biodiversity and alterations in species abundance, as indicated by α/β-diversity analysis. Specifically, we observed reduced relative abundances of Faecalibaculum and Romboutsia, accompanied by an increase in Turicibacter and Prevotellaceae UCG_001 in 16p11.2dp/+ group. Metabolomic analysis identified 19 significantly altered metabolites and unveiled enriched amino acid metabolism pathways. Notably, a disruption in the predominantly histamine-centered neurotransmitter network was observed in 16p11.2dp/+ mice. Collectively, our findings delineate potential alterations and correlations among the gut microbiota and microbial neurotransmitters in 16p11.2dp/+ mice, providing new insights into the pathogenesis of and treatment for 16p11.2 CNV-associated ASD.

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Section: Discussionmentioning

confidence: 99%

Microbiota profiling reveals alteration of gut microbial neurotransmitters in a mouse model of autism-associated 16p11.2 microduplication

Fu,

Yang,

Jiang

et al. 2024

Front. Microbiol.

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“…Interestingly, thiamine has previously been proposed as a treatment to ameliorate ASD symptoms, though research findings are limited. One study found that thiamine levels in children with ASD were 28% lower than controls, although other studies found no difference between thiamine levels in children with ASD and controls (Butterworth, 2003; Rashaid et al, 2022). No other study we are aware of has reported a complete reversal in the clinical course of an ASD diagnosis following treatment with thiamine and/or biotin.…”

Section: Discussionmentioning

confidence: 99%

Thiamine metabolism dysfunction syndrome 5 (THMD5) mimicking acute disseminated encephalomyelitis

Thompson,

Boyd,

Khoshnood

et al. 2023

American J of Med Genetics Pt A

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Thiamine pyrophosphate (TPP), the substrate of Thiamine pyrophosphate kinase (TPK), is an important cofactor in carbohydrate metabolism, specifically as a cofactor of the Pyruvate dehydrogenase complex (PDH) complex. The nervous system is particularly dependent on TPP due to its reliance on glucose metabolism. In this case, a four‐year‐old girl had a previously unreported pathogenic variant of the gene encoding TPK (TPK1) which presented as Thiamine metabolism dysfunction syndrome 5 (THMD5; OMIM 614458). She had been diagnosed with acute disseminated encephalomyelitis and autism spectrum disorder (ASD), and initially presented with fever and agitation following vaccinations. After follow‐up with genetic testing, our patient was found to have compound heterozygous pathogenic variants of TPK1. After treatment with biotin and thiamine her clinical status improved, and her ASD features resolved. The presentation of our patient was consistent with previous reports and adds to the evidence that thiamine and biotin are effective treatments of TPK1 related metabolic deficiencies. The improvement of neurobehavioral symptoms in this case was marked, highlighting the importance of early identification and therapeutic intervention in this condition.

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Research progress on the main brain network mechanisms of sleep disorders in autism spectrum disorder

He,

Xu,

et al. 2024

Curr Psychol

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Profiling plasma levels of thiamine and histamine in Jordanian children with autism spectrum disorder (ASD): potential biomarkers for evaluation of ASD therapies and diet

Cited by 5 publications

References 37 publications

Microbiota profiling reveals alteration of gut microbial neurotransmitters in a mouse model of autism-associated 16p11.2 microduplication

Microbiota profiling reveals alteration of gut microbial neurotransmitters in a mouse model of autism-associated 16p11.2 microduplication

Thiamine metabolism dysfunction syndrome 5 (THMD5) mimicking acute disseminated encephalomyelitis

Research progress on the main brain network mechanisms of sleep disorders in autism spectrum disorder

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