Autism spectrum disorder (ASD) is primarily characterized by core deficits in social skills, communication, and cognition and by repetitive stereotyped behaviors. These manifestations are variable between individuals, and ASD pathogenesis is complex, with over a thousand implicated genes, many epigenetic factors, and multiple environmental influences. The mesolimbic dopamine (DA) mediated brain reward system is held to play a key role, but the rapidly expanding literature reveals intricate, nuanced signaling involving a wide array of mesolimbic loci, neurotransmitters and receptor subtypes, and neuronal variants. How altered DA signaling may constitute a downstream convergence of the manifold causal origins of ASD is not well understood. A clear working framework of ASD pathogenesis may help delineate common stages and potential diagnostic and interventional opportunities. Hence, we summarize the known natural history of ASD in the context of emerging data and perspectives to update ASD reward signaling. Then, against this backdrop, we proffer a provisional framework that organizes ASD pathogenesis into successive levels, including (1) genetic and epigenetic changes, (2) disrupted mesolimbic reward signaling pathways, (3) dysregulated neurotransmitter/DA signaling, and finally, (4) altered neurocognitive and social behavior and possible antagonist/agonist based ASD interventions. This subdivision of ASD into a logical progression of potentially addressable parts may help facilitate the rational formulation of diagnostics and targeted treatments.
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http://dx.doi.org/10.3390/brainsci14070733 | DOI Listing |
Alzheimers Dement
December 2024
University of Pittsburgh, Pittsburgh, PA, USA.
Background: Recent studies have shown that patients with attention-deficit/hyperactivity disorder (ADHD) are more likely to be diagnosed with mild cognitive impairment (MCI) and Alzheimer's Disease (AD). Increased genetic risk for ADHD, measured with ADHD polygenic risk scores (ADHD-PRS), was associated with a more severe AD presentation, including worse cognitive function and higher tau pathology. Neuropsychiatric symptoms (NPSs) are common in AD and are hypothesized to occur with disease progression.
View Article and Find Full Text PDFInt J Dev Neurosci
February 2025
Department of Psychiatry and Clinical Psychology, Chonggang General Hospital, Chongqing, China.
Background: Autism spectrum disorder (ASD) appears to be a common neurological developmental deficit disorder in pediatric patients, resulting in a tremendous burden on society.
Purpose: The article aimed to explore early diagnostic markers for ASD.
Methods: Levels of long non-coding RNA (lncRNA) H19 and microRNA-484 (miR-484) were detected using fluorescence quantitative polymerase chain reaction (PCR).
J Physiol
January 2025
Instituto de Investigaciones Cerebrales, Universidad Veracruzana, Xalapa Ver, México.
Autism spectrum disorder (ASD) is a prevalent neurodevelopmental condition affecting a substantial number of children globally, characterized by diverse aetiologies, including genetic and environmental factors. Emerging research suggests that neurovascular dysregulation during development could significantly contribute to autism. This review synthesizes the potential role of vascular abnormalities in the pathogenesis of ASD and explores insights from studies on valproic acid (VPA) exposure during neural tube development.
View Article and Find Full Text PDFWorld J Microbiol Biotechnol
January 2025
State Key Laboratory of Biocatalysis and Enzyme Engineering, Environmental Microbial Technology Center of Hubei Province, College of Life Sciences, Hubei University, 368 Youyi Avenue, Wuchang District, Wuhan, Hubei, 430062, P.R. China.
Ectoine is a high-value protective agent with extensive applications in the fields of fine chemicals and biopharmaceuticals, and it is naturally synthesized by Halomonas in extreme environment, however, the current production level cannot meet the growing market demand. In this study, we aimed to develop an efficient and environmentally friendly ectoine production process using Bacillus licheniformis as the host organism. Through introducing ectoine synthetase gene cluster ectABC from Halomonas elongate, as well as optimizing ectABC expression by promoter and 5'-UTR optimization, ectoine titer was increased to 0.
View Article and Find Full Text PDFFront Behav Neurosci
December 2024
Department of Biology, Miami University, Oxford, OH, United States.
There is a striking sex bias in the prevalence and severity of autism spectrum disorder (ASD) with 80% of diagnoses occurring in males. Because the molecular etiology of ASD is likely combinatorial, including interactions across multiple genetic and environmental factors, it is difficult to investigate the physiological mechanisms driving sex-specific differences. Loss of function mutations in result in dysregulated mTORC1 signaling and underlie a multi-system disorder known as tuberous sclerosis (TSC).
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