Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder

Wang, Tao; Zhao, Tingting; Liu, Liqiu; Teng, Huajing; Fan, Tianda; Li, Yang; Wang, Yan; Li, Jinchen; Xia, Kun; Sun, Zhen

doi:10.1016/j.ebiom.2022.104091

Cited by 12 publications

(13 citation statements)

References 91 publications

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“…Given that molecular markers for social interactions remain unknown, our primary objective was to identify them, starting with WT mice. We focused on two mRNA families, recognized as potential markers of autism [8, 23,42,72]: the OT family, encompassing Oxt and Avp, and their receptors (Oxtr, Avpr1a, Avpr1b), and IEGs and neurotrophic factors, including Arc, Egr1, Fos, Fosb, Jun, Homer1a, Foxp1, Gdnf and Bdnf. We investigated their kinetic pro les up to 6 hours after SI mate, SI unknown, and NSI object, as well as 6 hours following acute social isolation, a condition with negative social valence.…”

Section: Identi Cation Of Speci C Molecular Markers Of Social Interac...mentioning

confidence: 99%

“…Previous studies have proposed OT, AVP, or their receptors as potential common biomarkers of autism [8, 23,72]. To explore shared dysregulations within the OT family, using Oprm1, Fmr1, Shank3 KO and isolated mice, we assessed alterations in Oxt, Avp, Oxtr and Avpr1a expression following SI unknown at 45 minutes and under basal conditions (Figs.…”

Section: Distinct Dysregulations Within the Oxytocin Family Among Mou...mentioning

confidence: 99%

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Deciphering autism heterogeneity: a molecular stratification approach in four mouse models

Pellissier,

Gora,

Dudas

et al. 2024

Preprint

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Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by impairments in social interaction, communication, as well as restrained or stereotyped behaviors. The inherent heterogeneity within the autism spectrum poses challenges for developing effective pharmacological treatments targeting core features. Successful clinical trials require the identification of robust markers to enable patient stratification. In this study, we identified molecular markers within the oxytocin and immediate early gene families across five interconnected brain structures of the social circuit. We used wild-type and four heterogeneous ASD mouse models, each exhibiting unique behavioral features along the autism spectrum. While dysregulations in the oxytocin family were model-specific, immediate early genes displayed widespread alterations, reflecting global changes in social plasticity in the four models. Through integrative analysis, we identified Egr1, Foxp1, Homer1a, Oxt and Oxtr as five robust and discriminant molecular markers that allowed successful stratification of the four models. Importantly, our stratification demonstrated predictive values when challenged with a fifth mouse model or identifying subgroups of mice potentially responsive to oxytocin treatment. Beyond providing insights into oxytocin and immediate early gene mRNA dynamics, this proof-of-concept study represents a significant step toward potential stratification of individuals with ASD. This work has implications for the success of clinical trials and the development of personalized medicine in autism.

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Section: Identi Cation Of Speci C Molecular Markers Of Social Interac...mentioning

confidence: 99%

Section: Distinct Dysregulations Within the Oxytocin Family Among Mou...mentioning

confidence: 99%

Deciphering autism heterogeneity: a molecular stratification approach in four mouse models

Pellissier,

Gora,

Dudas

et al. 2024

Preprint

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“…Asimismo, resulta ser una de las demostraciones más claras que brinda la naturaleza de la tesis de la génesis interpersonal de las funciones superiores intrapersonales (Flores-Rodríguez et al, 2022). También cabe resaltar que, aunque se desconoce su etiología, se relacionada con la activación inmune materna o una alteración del sistema oxitocinérgico (Bazyma et al, 2022;Massrali et al, 2022;Wang et al, 2022). Además, es necesario destacar que, para diagnosticar a un discente con TEA, los síntomas han de estar presentes desde la infancia o niñez temprana, aunque dicho trastorno puede ser detectado con posterioridad debido a las escasas demandas sociales existentes durante los primeros años de vida y el apoyo sustancial del entorno (Fortea-Sevilla et al, 2014).…”

Section: Introductionunclassified

El conocimiento del profesorado sobre el Trastorno del Espectro Autista

Fuster-Rico¹,

Pérez-Marco²,

Gonzálvez³

et al. 2023

REMIE

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Este trabajo se propuso estudiar el nivel de conocimientos sobre el Trastorno del Espectro del Autismo (TEA) que poseen 51 maestros. Se empleó el Autism Knowledge Questionnarie (AKQ) como instrumento para evaluar el conocimiento sobre el TEA. Se obtuvo que un 5.9 %, 47.1 % y 47.1 % de los participantes presentaron, respectivamente, un nivel de conocimiento débil, aceptable y bueno. Las carencias de conocimiento se asociaron con la comorbilidad, las características del TEA y los efectos de la medicación. Los resultados de los ANOVAS evidenciaron que las puntuaciones medias en el AKQ no difirieron significativamente en función del género, la formación universitaria, los años de experiencia docente y el tipo de centro. Respecto al perfil profesional actual, los maestros de Educación Especial o Audición y Lenguaje obtuvieron medias significativamente más elevadas que los maestros de Educación Primaria (d = 6.41). Del mismo modo, aquellos profesionales que habían tenido contacto con personas con TEA presentaban un nivel de conocimiento considerablemente más alto que los que no (d = 7.62). En conclusión, es necesaria una reconceptualización de la formación docente donde prime el contacto con el alumnado con TEA para enriquecer su conocimiento y, así, llevar a cabo una Educación Inclusiva.

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“…Peripheral oxytocin concentrations are decreased in ASD [25] and some clinical trials have reported improved social symptoms following chronic treatment with intranasal oxytocin [26][27][28][29] and increased visual attention towards emotional faces [26]. A number of single nucleotide polymorphisms (SNPs) of the oxytocin receptor (OXTR) are associated with ASD symptoms, and risk genes identi ed as contributing to ASD in uence oxytocin signaling [30,31]. Evidence has repeatedly linked the polymorphisms of the OXTR gene, particularly the rs2254298, rs2268491, rs2268498, and rs53576 SNPs with autism, empathy, and social and emotional processing [32][33][34][35][36][37][38][39][40].…”

Section: Introductionmentioning

confidence: 99%

Patterns of neural activity in response to threatening faces are predictive of autistic traits: modulatory effects of oxytocin receptor genotype

Kendrick,

Zheng,

Zhou

et al. 2023

Preprint

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Autistic individuals generally demonstrate impaired emotion recognition but it is unclear whether effects are emotion-specific or influenced by oxytocin receptor (OXTR) genotype. Here we implemented a dimensional approach using an implicit emotion recognition task together with functional MRI in a large cohort of subjects (N = 255) to establish associations between autistic traits and neural and behavioral responses to specific face emotions, together with modulatory effects of OXTR genotype. A searchlight-based multivariate pattern analysis (MVPA) revealed an extensive network of frontal, basal ganglia, cingulate and limbic regions exhibiting significant predictability for autistic traits from patterns of responses to angry relative to neutral expression faces. Functional connectivity analyses revealed a genotype interaction (rs2254298, rs2268491) for coupling between the orbitofrontal cortex and mid-cingulate during angry expression processing, with a negative association between coupling and autistic traits in the risk-allele group and a positive one in the non-risk allele group. Overall, results indicate extensive emotion-specific associations primarily between patterns of neural responses to angry faces and autistic traits in regions processing motivation, reward and salience but not in early visual processing. Functional connections between these identified regions were not only associated with autistic traits but also influenced by OXTR genotype. Thus, altered neural responses to threatening faces may be a potential biomarker for autistic symptoms although modulatory influences of OXTR genotype need to be taken into account.

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Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder

Cited by 12 publications

References 91 publications

Deciphering autism heterogeneity: a molecular stratification approach in four mouse models

Deciphering autism heterogeneity: a molecular stratification approach in four mouse models

El conocimiento del profesorado sobre el Trastorno del Espectro Autista

Patterns of neural activity in response to threatening faces are predictive of autistic traits: modulatory effects of oxytocin receptor genotype

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