Association between Neuroligin-1 polymorphism and plasma glutamine levels in individuals with autism spectrum disorder

Lee, In-Hee; Walker, Douglas I.; Lin, Yufei; Smith, Matthew; Mandl, Kenneth D.; Jones, Dean P.; Kong, Sek Won

doi:10.1016/j.ebiom.2023.104746

Cited by 3 publications

(3 citation statements)

References 80 publications

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“…They also evidenced a significant correlation between plasma glutamine levels and the severity of restrictive and repetitive behaviors (RRB), a central feature of the disorder. The authors did not find a direct association between NLGN1 variants and RRB scores, but these data suggest that plasma glutamine levels could potentially serve as an endophenotype, mediating the genetic influence of NLGN1 on ASD severity on RRB severity [111].…”

Section: Gobp_cell_adhesionmentioning

confidence: 84%

“…Many of them are also involved in synaptic target recognition and subcellular specificity [108][109][110]. Therefore, they are often closely associated with various neurodevelopmental and psychiatric disorders such as autism and other neuropsychiatric disorders [106,111]. The genetic component in ASD is very important, as expressed in previous studies [8,106,111].…”

Section: Gobp_cell_adhesionmentioning

confidence: 92%

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Transcriptome Study in Sicilian Patients with Autism Spectrum Disorder

Salemi,

Schillaci,

Lanza

et al. 2024

Biomedicines

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ASD is a complex condition primarily rooted in genetics, although influenced by environmental, prenatal, and perinatal risk factors, ultimately leading to genetic and epigenetic alterations. These mechanisms may manifest as inflammatory, oxidative stress, hypoxic, or ischemic damage. To elucidate potential variances in gene expression in ASD, a transcriptome analysis of peripheral blood mononuclear cells was conducted via RNA-seq on 12 ASD patients and 13 healthy controls, all of Sicilian ancestry to minimize environmental confounds. A total of 733 different statistically significant genes were identified between the two cohorts. Gene Set Enrichment Analysis (GSEA) and Gene Ontology (GO) terms were employed to explore the pathways influenced by differentially expressed mRNAs. GSEA revealed GO pathways strongly associated with ASD, namely the GO Biological Process term “Response to Oxygen-Containing Compound”. Additionally, the GO Cellular Component pathway “Mitochondrion” stood out among other pathways, with differentially expressed genes predominantly affiliated with this specific pathway, implicating the involvement of different mitochondrial functions in ASD. Among the differentially expressed genes, FPR2 was particularly highlighted, belonging to three GO pathways. FPR2 can modulate pro-inflammatory responses, with its intracellular cascades triggering the activation of several kinases, thus suggesting its potential utility as a biomarker of pro-inflammatory processes in ASD.

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Section: Gobp_cell_adhesionmentioning

confidence: 84%

Section: Gobp_cell_adhesionmentioning

confidence: 92%

Transcriptome Study in Sicilian Patients with Autism Spectrum Disorder

Salemi,

Schillaci,

Lanza

et al. 2024

Biomedicines

View full text Add to dashboard Cite

show abstract

“…Many of them are also involved in synaptic target recognition and subcellular specificity [75][76][77][78][79][80][81]. Therefore, they are often closely associated with various neurodevelopment and psychiatric disorders [82,83]. Here, we will focus on the role of immunoglobulin superfamily cell adhesion molecules (IgSF CAMs).…”

Section: Cell Adhesion/transmembrane Moleculesmentioning

confidence: 99%

Cellular and Molecular Mechanisms Underlying Synaptic Subcellular Specificity

Wang,

Fan,

Shao

2024

Brain Sciences

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Chemical synapses are essential for neuronal information storage and relay. The synaptic signal received or sent from spatially distinct subcellular compartments often generates different outcomes due to the distance or physical property difference. Therefore, the final output of postsynaptic neurons is determined not only by the type and intensity of synaptic inputs but also by the synaptic subcellular location. How synaptic subcellular specificity is determined has long been the focus of study in the neurodevelopment field. Genetic studies from invertebrates such as Caenorhabditis elegans (C. elegans) have uncovered important molecular and cellular mechanisms required for subcellular specificity. Interestingly, similar molecular mechanisms were found in the mammalian cerebellum, hippocampus, and cerebral cortex. This review summarizes the comprehensive advances in the cellular and molecular mechanisms underlying synaptic subcellular specificity, focusing on studies from C. elegans and rodents.

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Autism heterogeneity; family-level interventions; blood glutamine

Adams¹

2023

Spectrum

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Association between Neuroligin-1 polymorphism and plasma glutamine levels in individuals with autism spectrum disorder

Cited by 3 publications

References 80 publications

Transcriptome Study in Sicilian Patients with Autism Spectrum Disorder

Transcriptome Study in Sicilian Patients with Autism Spectrum Disorder

Cellular and Molecular Mechanisms Underlying Synaptic Subcellular Specificity

Autism heterogeneity; family-level interventions; blood glutamine

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