Tu1992 The Neuroligin 3 Arg451cys (Nl-3) Mouse Model of Autism Shows Altered Colonic Function In Vitro

Ellis, Melina; Taher, Ali M.; McKeown, Sonja J.; Hill, Elisa L.; Bornstein, Joel C.

doi:10.1016/s0016-5085(12)63479-9

Cited by 2 publications

(1 citation statement)

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“…Many ASD-associated genes encode proteins involved in synapse formation and maintenance. Some of these mutations in synaptic genes have also been found to be expressed in the ENS, such as Shank3 and neuroligin 3 ( Huett et al, 2009 ; Raab et al, 2010 ; Ellis et al, 2012 ; Zhang et al, 2013 ; Niesler and Rappold, 2021 ). Additionally, SLC6A4 and CHD8 , involved in specific signaling pathways, also play a crucial role in the development of the ENS ( Wade et al, 1996 ; Bernier et al, 2014 ).…”

Section: Genetic Risk Factors Relevance To Gi Comorbidities In Asdmentioning

confidence: 99%

The enteric nervous system deficits in autism spectrum disorder

Wang,

Tang,

Wei

et al. 2023

Front. Neurosci.

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Gastrointestinal (GI) disorders are common comorbidities in individuals with autism spectrum disorder (ASD), and abnormalities in these issues have been found to be closely related to the severity of core behavioral deficits in autism. The enteric nervous system (ENS) plays a crucial role in regulating various aspects of gut functions, including gastrointestinal motility. Dysfunctional wiring in the ENS not only results in various gastrointestinal issues, but also correlates with an increasing number of central nervous system (CNS) disorders, such as ASD. However, it remains unclear whether the gastrointestinal dysfunctions are a consequence of ASD or if they directly contribute to its pathogenesis. This review focuses on the deficits in the ENS associated with ASD, and highlights several high-risk genes for ASD, which are expressed widely in the gut and implicated in gastrointestinal dysfunction among both animal models and human patients with ASD. Furthermore, we provide a brief overview of environmental factors associated with gastrointestinal tract in individuals with autism. This could offer fresh perspectives on our understanding of ASD.

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Section: Genetic Risk Factors Relevance To Gi Comorbidities In Asdmentioning

confidence: 99%

The enteric nervous system deficits in autism spectrum disorder

Wang,

Tang,

Wei

et al. 2023

Front. Neurosci.

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Extracerebral Dysfunction in Animal Models of Autism Spectrum Disorder

Hill‐Yardin

McKeown

Novarino

et al. 2017

Translational Anatomy and Cell Biology of Autism Spectrum Disorder

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Genetic factors might be largely responsible for the development of autism spectrum disorder (ASD) that alone or in combination with specific environmental risk factors trigger the pathology. Multiple mutations identified in ASD patients that impair synaptic function in the central nervous system are well studied in animal models. How these mutations might interact with other risk factors is not fully understood though. Additionally, how systems outside of the brain are altered in the context of ASD is an emerging area of research. Extracerebral influences on the physiology could begin in utero and contribute to changes in the brain and in the development of other body systems and further lead to epigenetic changes. Therefore, multiple recent studies have aimed at elucidating the role of gene-environment interactions in ASD. Here we provide an overview on the extracerebral systems that might play an important associative role in ASD and review evidence regarding the potential roles of inflammation, trace metals, metabolism, genetic susceptibility, enteric nervous system function and the microbiota of the gastrointestinal (GI) tract on the development of endophenotypes in animal models of ASD. By influencing environmental conditions, it might be possible to reduce or limit the severity of ASD pathology.

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Tu1992 The Neuroligin 3 Arg451cys (Nl-3) Mouse Model of Autism Shows Altered Colonic Function In Vitro

Cited by 2 publications

References 0 publications

The enteric nervous system deficits in autism spectrum disorder

The enteric nervous system deficits in autism spectrum disorder

Extracerebral Dysfunction in Animal Models of Autism Spectrum Disorder

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