scholarly journals Identification of rare noncoding sequence variants in gamma-aminobutyric acid A receptor, alpha 4 subunit in autism spectrum disorder

Neurogenetics ◽  
2017 ◽  
Vol 19 (1) ◽  
pp. 17-26 ◽  
Author(s):  
Anthony J. Griswold ◽  
Derek Van Booven ◽  
Michael L. Cuccaro ◽  
Jonathan L. Haines ◽  
John R. Gilbert ◽  
...  
2020 ◽  
Vol 63 (4) ◽  
pp. 103850
Author(s):  
Anne Slavotinek ◽  
Johanna M. van Hagen ◽  
Louisa Kalsner ◽  
Shashidhar Pai ◽  
Laura Davis-Keppen ◽  
...  

2020 ◽  
Vol 10 (3) ◽  
pp. 163 ◽  
Author(s):  
Rosa Marotta ◽  
Maria C. Risoleo ◽  
Giovanni Messina ◽  
Lucia Parisi ◽  
Marco Carotenuto ◽  
...  

Autism spectrum disorder (ASD) refers to complex neurobehavioral and neurodevelopmental conditions characterized by impaired social interaction and communication, restricted and repetitive patterns of behavior or interests, and altered sensory processing. Environmental, immunological, genetic, and epigenetic factors are implicated in the pathophysiology of autism and provoke the occurrence of neuroanatomical and neurochemical events relatively early in the development of the central nervous system. Many neurochemical pathways are involved in determining ASD; however, how these complex networks interact and cause the onset of the core symptoms of autism remains unclear. Further studies on neurochemical alterations in autism are necessary to clarify the early neurodevelopmental variations behind the enormous heterogeneity of autism spectrum disorder, and therefore lead to new approaches for the treatment and prevention of autism. In this review, we aim to delineate the state-of-the-art main research findings about the neurochemical alterations in autism etiology, and focuses on gamma aminobutyric acid (GABA) and glutamate, serotonin, dopamine, N-acetyl aspartate, oxytocin and arginine-vasopressin, melatonin, vitamin D, orexin, endogenous opioids, and acetylcholine. We also aim to suggest a possible related therapeutic approach that could improve the quality of ASD interventions. Over one hundred references were collected through electronic database searching in Medline and EMBASE (Ovid), Scopus (Elsevier), ERIC (Proquest), PubMed, and the Web of Science (ISI).


2016 ◽  
Vol 10 ◽  
Author(s):  
Richard E. Frye ◽  
Leanna Delhey ◽  
John Slattery ◽  
Marie Tippett ◽  
Rebecca Wynne ◽  
...  

2017 ◽  
Vol 32 (5) ◽  
pp. 1595-1601 ◽  
Author(s):  
Arezou Sayad ◽  
Rezvan Noroozi ◽  
Mir Davood Omrani ◽  
Mohammad Taheri ◽  
Soudeh Ghafouri-Fard

2014 ◽  
Vol 07 (02) ◽  
pp. 053 ◽  
Author(s):  
Richard Frye ◽  
◽  
Jeffrey Sequeira ◽  
Edward Quadros ◽  
Daniel Rossignol ◽  
...  

2021 ◽  
Author(s):  
Melissa Kirkovski ◽  
Aron T Hill ◽  
Nigel C Rogasch ◽  
Takashi Saeki ◽  
Bernadette M Fitzgibbon ◽  
...  

Background: There is evidence to suggest a disruption of gamma-aminobutyric acid (GABA) in autism spectrum disorder (ASD), but findings are mixed. Concurrent electroencephalography and transcranial magnetic stimulation (TMS-EEG) provides a novel method by which to probe GABA-mediated cortical inhibition. Methods: With a particular focus on GABAB-ergic mechanisms, we investigated the N100 peak of the TMS evoked potential (TEP), as well as long interval cortical inhibition (LICIEEG) in adults with ASD (n = 23; 12 female) without intellectual disability, and a neurotypical comparison group (n =22; 12 female) matched for age, sex, and IQ. Seventy-five single- (spTMS) and 75 paired- (ppTMS; 100 ms inter-stimulus-interval) pulses were applied to the right primary motor cortex (M1), right temporoparietal junction (TPJ), and right dorsolateral prefrontal cortex (DLPFC) while EEG was recorded from 20 scalp electrodes. Additionally, electromyography (EMG) was used to investigate corticospinal inhibition following ppTMS to M1 (LICIEMG). Results: There were no group differences in the N100 amplitude or latency following spTMS. LICI outcomes following ppTMS, as measured by either EEG or EMG, also did not differ between groups. These findings were further supported by Bayesian analyses, which provided weak-moderate support for the null hypothesis. Limitations: Data presented here reflect adults without intellectual disability, and the generalisability of these results is therefore limited. Conclusions: The findings of this study argue against GABAB-ergic impairment in adults with ASD without intellectual disability, at least at the cortical regions examined. Further research investigating these mechanisms in ASD at various ages, with varying degrees of symptomatology, and at different brain sites is an important factor in understating the role of GABA in the neuropathophysiology of ASD.


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