Topic Editors

Department of Ecological and Biological Sciences (DEB), University of Tuscia, 00110 Viterbo, Italy
Department of Pediatrics, Dokkyo Medical University, Mibu, Tochigi 321-0293, Japan

Autism: Molecular Bases, Diagnosis and Therapies, 2nd Volume

Abstract submission deadline
31 March 2025
Manuscript submission deadline
31 May 2025
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1105

Topic Information

Dear Colleagues,

The causes of autism are still unknown today. More recent studies suggest that autism spectrum disorders may occur following the birth of abnormal neurons (neurobiological causes) that fail to create correct connections with the other nerve cells of the brain, to the point of causing incorrect the functioning of the entire organ. Neuronal networks are formed, above all, during the foetal development phase, allowing one to hypothesize that the cause of this disorder is due to a combination of genetic factors, congenital alterations, and environmental risk factors. There is evidence of familiarity, but also of individuals with autism as carriers of certain genetic diseases (Rett syndrome, Angelman syndrome, etc.), as well as learning disabilities such as dyslexia and dyscalculia, ADHD, Tourette's syndrome, etc. It is therefore necessary to gather more information on the possible causes of the onset of autism in order to better understand it, intervene, and propose targeted therapies. Unfortunately, the diagnosis is often made around the age of 6, when children begin to experience the first difficulties of the condition, with extremely variable symptoms both in extent and in severity. Diagnosis must not be based on psychological tests only, but also on genetic, biochemical and microbiological analysis. A list of possible biomarkers in the urine and blood to allow an early (from the first years of life) and accurate diagnosis is of fundamental importance in order to define the most appropriate therapy. Therapy must be multimodal, i.e., psychological but also pharmacological, especially when some symptoms are particularly debilitating, or present with particular associated pathologies. The outcome of this Special Issue will represent a further step in understanding the molecular mechanisms underlying autism spectrum disorder in order to achieve early diagnosis and provide researchers and clinicians with the most up-to-date information on possible biomarkers to help them understand how to implement therapeutic strategies for patients.

Prof. Dr. Lello Zolla
Prof. Dr. Kunio Yui
Topic Editors

Keywords

  • genetic causes of autism
  • genetic mutations
  • altered metabolism
  • environmental factors
  • gene-environment interactions
  • risk factors
  • microbiota-gut-brain-axis
  • diagnostic marker
  • therapeutic marker
  • metabolomics
  • proteomics
  • metagenomics
  • interactomics
  • neurotransmitter
  • molecular neuroscience

Participating Journals

Journal Name Impact Factor CiteScore Launched Year First Decision (median) APC
Biomedicines
biomedicines
3.9 5.2 2013 15.4 Days CHF 2600 Submit
Brain Sciences
brainsci
2.7 4.8 2011 15.6 Days CHF 2200 Submit
Current Issues in Molecular Biology
cimb
2.8 2.9 1999 13.5 Days CHF 2200 Submit
Diagnostics
diagnostics
3.0 4.7 2011 20.7 Days CHF 2600 Submit
International Journal of Molecular Sciences
ijms
4.9 8.1 2000 16.3 Days CHF 2900 Submit
International Journal of Translational Medicine
ijtm
- - 2021 14.2 Days CHF 1000 Submit

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Published Papers (2 papers)

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30 pages, 1375 KiB  
Review
Mesenchymal Stem Cells and Purinergic Signaling in Autism Spectrum Disorder: Bridging the Gap between Cell-Based Strategies and Neuro-Immune Modulation
by Agata Wikarska, Kacper Roszak and Katarzyna Roszek
Biomedicines 2024, 12(6), 1310; https://doi.org/10.3390/biomedicines12061310 - 13 Jun 2024
Viewed by 374
Abstract
The prevalence of autism spectrum disorder (ASD) is still increasing, which means that this neurodevelopmental lifelong pathology requires special scientific attention and efforts focused on developing novel therapeutic approaches. It has become increasingly evident that neuroinflammation and dysregulation of neuro-immune cross-talk are specific [...] Read more.
The prevalence of autism spectrum disorder (ASD) is still increasing, which means that this neurodevelopmental lifelong pathology requires special scientific attention and efforts focused on developing novel therapeutic approaches. It has become increasingly evident that neuroinflammation and dysregulation of neuro-immune cross-talk are specific hallmarks of ASD, offering the possibility to treat these disorders by factors modulating neuro-immunological interactions. Mesenchymal stem cell-based therapy has already been postulated as one of the therapeutic approaches for ASD; however, less is known about the molecular mechanisms of stem cell influence. One of the possibilities, although still underestimated, is the paracrine purinergic activity of MSCs, by which stem cells ameliorate inflammatory reactions. Modulation of adenosine signaling may help restore neurotransmitter balance, reduce neuroinflammation, and improve overall brain function in individuals with ASD. In our review article, we present a novel insight into purinergic signaling, including but not limited to the adenosinergic pathway and its role in neuroinflammation and neuro-immune cross-talk modulation. We anticipate that by achieving a greater understanding of the purinergic signaling contribution to ASD and related disorders, novel therapeutic strategies may be devised for patients with autism in the near future. Full article
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11 pages, 1038 KiB  
Article
Combining Anti-Mitochondrial Antibodies, Anti-Histone, and PLA2/COX Biomarkers to Increase Their Diagnostic Accuracy for Autism Spectrum Disorders
by Afaf El-Ansary, Hanan A. Alfawaz, Abir Ben Bacha and Laila Y. Al-Ayadhi
Brain Sci. 2024, 14(6), 576; https://doi.org/10.3390/brainsci14060576 - 5 Jun 2024
Viewed by 478
Abstract
Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social interaction and restricted and repetitive behaviors. Oxidative stress may be a critical link between mitochondrial dysfunction and ASD as reactive oxygen species (ROS) generated from pro-oxidant environmental toxicants and [...] Read more.
Background: Autism spectrum disorder (ASD) is a neurodevelopmental disorder characterized by impairments in social interaction and restricted and repetitive behaviors. Oxidative stress may be a critical link between mitochondrial dysfunction and ASD as reactive oxygen species (ROS) generated from pro-oxidant environmental toxicants and activated immune cells can result in mitochondrial failure. Recently, mitochondrial dysfunction, autoimmunity, and abnormal lipid mediators have been identified in multiple investigations as an acknowledged etiological mechanism of ASD that can be targeted for therapeutic intervention. Methods: The relationship between lipid mediator markers linked to inflammation induction, such as phospholipase A2/cyclooxygenase-2 (PLA2/Cox-2), and the mitochondrial dysfunction marker anti-mitochondrial antibodies (AMA-M2), and anti-histone autoantibodies in the etiology of ASD was investigated in this study using combined receiver operating characteristic (ROC) curve analyses. This study also sought to identify the linear combination for a given set of markers that optimizes the partial area under ROC curves. This study included 40 age- and sex-matched controls and 40 ASD youngsters. The plasma of both groups was tested for PLA2/COX-2, AMA-M2, and anti-histone autoantibodies’ levels using ELISA kits. ROC curves and logistic regression models were used in the statistical analysis. Results: Using the integrated ROC curve analysis, a notable rise in the area under the curve was noticed. Additionally, the combined markers had markedly improved specificity and sensitivity. Conclusions: The current study suggested that measuring the predictive value of selected biomarkers related to mitochondrial dysfunction, autoimmunity, and lipid metabolism in children with ASD using a ROC curve analysis could lead to a better understanding of the etiological mechanism of ASD as well as its relationship with metabolism. Full article
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