The neurobiology of autism spectrum disorders

Abstract

Data is progressively and robustly accumulating regarding the biological basis of autism. Autism spectrum disorders (ASD) are currently considered a group of neurodevelopmental disorders with onset very early in life and a complex, heterogeneous, multifactorial aetiology. A comprehensive search of the last five years of the Medline database was conducted in order to summarize recent evidence on the neurobiological bases of autism. The main findings on genetic influence, neuropathology, neurostructure and brain networks are summarized. In addition, findings from peripheral samples of subjects with autism and animal models, which show immune, oxidative, mitochondrial dysregulations, are reported. Then, other biomarkers from very different systems associated with autism are reported. Finally, an attempt is made to try and integrate the available evidence, which points to a oligogenetic, multifactorial aetiology that converges in an aberrant micro-organization of the cortex, with abnormal functioning of the synapses and abnormalities in very general physiological pathways (such as inflammatory, immune and redox systems).

Do Low Serum UCH-L1 and TDP-43 Levels Indicate Disturbed Ubiquitin- Proteosome System in Autism Spectrum Disorder?

“…In recent genetic studies, it has been suggested that there is an increased risk of autism with proteins related to synapse formation (23). UPS was considered important for regulating synaptic protein functions, particularly in the synapse.…”

Autism throughout genetics: Perusal of the implication of ion channels

“…Both of HVA and LVA channels control the passive flow of Ca 2+ across membranes. Therefore, alteration in their components leads to defective channel function that translates themselves into a variety of neurological disorders including hemiplegic migraine, episodic and spinocerebellar ataxia, epilepsy, and ASD (Bidaud, Mezghrani, Swayne, Monteil, & Lory, 2006; Breitenkamp, Matthes, & Herzig, 2015; Heyes et al., 2015; Parellada et al., 2014; Stary et al., 2008; Zamponi, 2016). …”

Novel Interactive Partners of Neuroligin 3: New Aspects for Pathogenesis of Autism

“…Evidence has shown that NLGN3 could function in neuron synaptogenesis, and may also connect glia and neurons (Varoqueaux et al 2006;Gilbert et al 2001). Synapse formation of abnormal specification along with communication defects between glia and neurons are intricately linked to autism, a neurodevelopmental disorder with a strong genetic predisposition (Parellada et al 2014;Zeidán-Chuliá et al 2014). Previously, genetic mutations of NLGNs, which cause protein truncation or amino acid substitution, have been identified in autistic individuals (Jamain et al 2003;Zhang et al 2009).…”