Autism: Molecular Bases, Diagnosis and Therapies, 3rd Volume

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 the incorrect functioning of the entire organ. Neuronal networks are formed, above all, during the fetal 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, a 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 that allow for 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 Topic 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

Participating Journals

Journal Name	Impact Factor	CiteScore	Launched Year	First Decision (median)	APC
Biomedicines biomedicines	3.9	6.8	2013	21 Days	CHF 2600	Submit
Brain Sciences brainsci	2.8	5.6	2011	17.6 Days	CHF 2200	Submit
Current Issues in Molecular Biology cimb	3.0	3.7	1999	16.3 Days	CHF 2200	Submit
International Journal of Molecular Sciences ijms	4.9	9.0	2000	17.8 Days	CHF 2900	Submit
International Journal of Translational Medicine ijtm	-	2.2	2021	28.2 Days	CHF 1200	Submit

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Published Papers (3 papers)

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12 pages, 3224 KB  

Open AccessArticle

Serum MAP1A as a Potential Biomarker for Autism Spectrum Disorder

by Jiwon Jeong, Seung Hyeon Lee and Dongsun Park

Brain Sci. 2026, 16(5), 478; https://doi.org/10.3390/brainsci16050478 - 29 Apr 2026

Viewed by 193

Abstract

Background/Objectives: Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition currently diagnosed through subjective behavioral assessments. Objective blood-based biomarkers are needed to enable earlier and more accurate identification. In this study, we aimed to identify synapse-related biomarkers associated with ASD and evaluate [...] Read more.

Background/Objectives: Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition currently diagnosed through subjective behavioral assessments. Objective blood-based biomarkers are needed to enable earlier and more accurate identification. In this study, we aimed to identify synapse-related biomarkers associated with ASD and evaluate their potential as serum-based indicators. Methods: RNA sequencing was performed on the cerebellum, hippocampus, and cerebral cortex of a valproic acid-induced rat model of ASD to identify differentially expressed genes (DEGs). Functional enrichment analyses, including Gene Ontology and Kyoto Encyclopedia of Genes and Genomes, were conducted to explore associated pathways. Synapse-related hub genes were selected by comparison with the SFARI autism gene database, and the serum expression of candidate proteins was assessed using Western blotting. Results: A total of 692, 813, and 1059 DEGs were identified in the cerebellum, hippocampus, and cortex, respectively. Enrichment analyses highlighted dendrite development, postsynaptic density, and glutamatergic synapse pathways as significantly affected. Six synaptic hub genes were prioritized, among which serum MAP1A expression was significantly elevated in the ASD rats. Conclusions: These findings suggest that serum MAP1A may represent a potential biomarker reflecting synaptic abnormalities in ASD. Further validation in human cohorts and integration into a multi-marker framework are warranted to account for the heterogeneity of ASD. Full article

(This article belongs to the Topic Autism: Molecular Bases, Diagnosis and Therapies, 3rd Volume)

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14 pages, 1151 KB  

Open AccessArticle

Comprehensive High-Depth Proteomic Analysis of Plasma Extracellular Vesicle-Containing Preparations in CDKL5 Deficiency Disorder

by Tadashi Shiohama, Satoru Takahashi, Ryo Takeguchi, Yuichi Akaba, Hironori Sato, Masaki Ishikawa, Yusuke Kawashima, Asuka Koshi, Chihiro Abe, Shin Nabatame, Keita Tsujimura, Hiromichi Hamada and Keiichiro Suzuki

Biomedicines 2026, 14(5), 961; https://doi.org/10.3390/biomedicines14050961 - 22 Apr 2026

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Abstract

Background/Objectives: CDKL5 deficiency disorder (CDD) is a rare X-linked developmental and epileptic encephalopathy characterized by early onset refractory epilepsy and severe neurodevelopmental impairment with autistic features. Despite advances in genetic diagnosis, objective biomarkers reflecting disease mechanisms remain limited. Extracellular vesicles (EVs) circulating [...] Read more.

Background/Objectives: CDKL5 deficiency disorder (CDD) is a rare X-linked developmental and epileptic encephalopathy characterized by early onset refractory epilepsy and severe neurodevelopmental impairment with autistic features. Despite advances in genetic diagnosis, objective biomarkers reflecting disease mechanisms remain limited. Extracellular vesicles (EVs) circulating in the blood may contain disease-related proteins derived from the central nervous system. This study aimed to characterize the plasma EV proteome in CDD in a hypothesis-generating exploratory framework and identify the candidate molecular pathways associated with this disorder. Methods: Plasma samples from seven patients with genetically confirmed CDD and seven neurotypical developmental controls were analyzed. Extracellular vesicle-containing preparations (EVs-cp) were isolated via immunoprecipitation using antibodies against CD9, CD63, and CD81. Proteomic profiling was performed using data-independent mass spectrometry. Differentially expressed proteins were identified using Welch’s t-test with a false discovery rate correction. Functional enrichment, protein interaction network, and correlation analyses were performed using CDKL5 Clinical Severity Assessment (CCSA) scores. Results: In total, 5617 proteins were identified, of which 3510 were used for quantitative analysis. Compared to the controls, 2108 proteins were upregulated and 158 were downregulated in the CDD samples. Enrichment analysis revealed alterations in vesicle-mediated transport, cytoskeletal organization, and immune-related pathways. Several proteins were also correlated with clinical severity scores. Conclusions: Plasma EV proteomics revealed molecular alterations associated with CDD and provided a potential approach for biomarker discovery and mechanistic investigation. Full article

(This article belongs to the Topic Autism: Molecular Bases, Diagnosis and Therapies, 3rd Volume)

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12 pages, 3941 KB  

Open AccessEditor’s ChoiceArticle

A Novel Anti-Cadherin-19 Monoclonal Antibody (Ca₁₉Mab-8) for Flow Cytometry, Western Blotting, and Immunohistochemistry

by Guanjie Li, Hiroyuki Suzuki, Mika K. Kaneko and Yukinari Kato

Curr. Issues Mol. Biol. 2026, 48(3), 307; https://doi.org/10.3390/cimb48030307 - 12 Mar 2026

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Abstract

The type II cadherin Cadherin-19 (CDH19) plays a crucial role in neural crest development. CDH19 regulates cell–cell junctions and migration by forming catenin–cytoskeleton complexes. Although anti-CDH19 monoclonal antibodies (mAbs) are used for specific applications such as Western blotting and immunohistochemistry (IHC), suitable anti-CDH19 [...] Read more.

The type II cadherin Cadherin-19 (CDH19) plays a crucial role in neural crest development. CDH19 regulates cell–cell junctions and migration by forming catenin–cytoskeleton complexes. Although anti-CDH19 monoclonal antibodies (mAbs) are used for specific applications such as Western blotting and immunohistochemistry (IHC), suitable anti-CDH19 mAbs for flow cytometry are limited. Therefore, developing mAbs that specifically recognize cell-surface-expressed CDH19 is essential for advancing both basic research and therapeutic strategies. Here, novel anti-human CDH19 mAbs (Ca₁₉Mabs) were created using flow cytometry-based high-throughput screening. One clone, Ca₁₉Mab-8 (IgG₁, κ), specifically recognized CDH19-overexpressed Chinese hamster ovary-K1 cells but did not bind to other 21 CDHs (including both type I and type II CDHs) in flow cytometry. Additionally, Ca₁₉Mab-8 recognized endogenous CDH19 in the human glioblastoma cell line LN229. The dissociation constant (K_D) of Ca₁₉Mab-8 for LN229/CDH19 was 9.0 × 10⁻⁹ M. Ca₁₉Mab-8 also detected endogenous CDH19 in Western blotting. Furthermore, Ca₁₉Mab-8 can detect CDH19 in IHC using human melanoma tissue. These findings suggest that Ca₁₉Mab-8 is a novel mAb that detects cell-surface-expressed CDH19 with high specificity and is suitable for various applications in basic research. Therefore, Ca₁₉Mab-8 has potential for clinical diagnosis and tumor therapy. Full article

(This article belongs to the Topic Autism: Molecular Bases, Diagnosis and Therapies, 3rd Volume)

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