Research in autism spectrum disorders, Journal Year: 2024, Volume and Issue: 119, P. 102526 - 102526
Published: Nov. 30, 2024
Language: Английский
MedComm, Journal Year: 2024, Volume and Issue: 5(3)
Published: March 1, 2024
Abstract Autism spectrum disorder (ASD) has become a common neurodevelopmental disorder. The heterogeneity of ASD poses great challenges for its research and clinical translation. On the basis reviewing ASD, this review systematically summarized current status progress pathogenesis, diagnostic markers, interventions ASD. We provided an overview molecular mechanisms identified by multi‐omics studies convergent mechanism in different genetic backgrounds. comorbidities, associated with important physiological metabolic abnormalities (i.e., inflammation, immunity, oxidative stress, mitochondrial dysfunction), gut microbial were reviewed. non‐targeted omics targeting markers also Moreover, we methods behavioral educational interventions, intervention related to technological devices, on medical potential drug targets. This highlighted application high‐throughput emphasized importance seeking homogeneity from exploring convergence disease mechanisms, biomarkers, approaches, proposes that taking into account individuality commonality may be key achieve accurate diagnosis treatment
Language: Английский
Citations
19
Published: Feb. 26, 2025
Protein phosphorylation is a fundamental regulatory mechanism governing broad spectrum of cellular processes. In the nervous system, it critical for modulating neurotransmitter release, synaptic plasticity, neuronal excitability, and cell survival. Dysregulation protein kinase activity closely linked to pathogenesis various neurological psychiatric disorders, positioning several kinases as promising therapeutic targets. Although inhibitors (PKIs), major class compounds that modulate activity, have shown considerable success in oncology, their application diseases remains early stages exploration. Of 82 PKIs approved by Food Drug Administration (FDA), 37 are now preclinical clinical trials conditions, primarily targeting signaling pathways mediated key implicated these diseases. This review examines roles effects neurodegenerative, psychiatric, selected such autism disorders (ASD) epilepsy. We focus on Abelson I (ABL1), calmodulin-dependent II (CaMKII), casein 1δ (CK1δ), c-Jun N-terminal (JNK), cyclin-dependent 5 (CDK5), dual-specificity tyrosine-phosphorylated regulated 1A (DYRK1A), leucine-rich repeat 2 (LRRK2), extracellular signal-regulated 1/2 (ERK1/2), glycogen synthase 3β (GSK3β), mammalian target rapamycin (mTOR), p38 mitogen-activated kinase, C (PKC) neurodegenerative Additionally, we discuss CaMKII, CDK5, ERK1/2, PI3K/AKT/GSK3, A (PKA), PKC focusing schizophrenia mood analyze GSK3β, mTOR ASD underscores potential while highlighting ongoing challenges need further research refine kinase-targeted therapies.
Language: Английский
Citations
1
Food Research International, Journal Year: 2024, Volume and Issue: 186, P. 114404 - 114404
Published: April 21, 2024
Language: Английский
Citations
5
Journal of Neuroscience, Journal Year: 2024, Volume and Issue: 44(21), P. e0136242024 - e0136242024
Published: April 25, 2024
Fragile X syndrome (FXS) arises from the loss of fragile messenger ribonucleoprotein (FMRP) needed for normal neuronal excitability and circuit functions. Recent work revealed that FMRP contributes to mossy fiber long-term potentiation by adjusting Kv4 A-type current availability through interactions with a Cav3-Kv4 ion channel complex, yet mechanism has not been defined. In this study using wild-type Fmr1 knock-out (KO) tsA-201 cells cerebellar sections male KO mice, we show associates all subunits Cav3.1-Kv4.3-KChIP3 complex is critical enabling calcium-dependent shifts in Kv4.3 inactivation modulate current. Specifically, upon depolarization Cav3 calcium influx activates dual-specific phosphatase 1/6 (DUSP1/6) deactivate ERK1/2 (ERK) lower phosphorylation Kv4.3, signaling pathway does function cells. mouse tissue slices, granule exhibit hyperexcitable response membrane depolarizations. Either incubating or vivo administration tat-conjugated N-terminus fragment (FMRP-N-tat) rescued cell excitability, decrease level DUSP6. Together these data reveal Cav3-activated DUSP FMRP-Cav3-Kv4 misregulated conditions. Moreover, FMRP-N-tat restores rescue control as potential therapeutic approach alleviating symptoms FXS.
Language: Английский
Citations
2
Current Neurology and Neuroscience Reports, Journal Year: 2024, Volume and Issue: 25(1)
Published: Dec. 6, 2024
Language: Английский
Citations
2
Children, Journal Year: 2024, Volume and Issue: 11(11), P. 1311 - 1311
Published: Oct. 29, 2024
Autism Spectrum Disorder (ASD) is a complex neurodevelopmental condition characterized by challenges in communication, social interaction difficulties, and repetitive behaviors that can hinder child's development. The growing prevalence of autism necessitates early detection effective intervention strategies. This review summarizes the current knowledge indicators ASD, including brain development markers behavioral signs visible infants. It investigates diagnostic processes, emphasizing importance timely at 18 to 24 months using established screening tools. We discuss variety therapeutic approaches, interventions, educational strategies such as music therapy, technological advancements speech-generating devices. Furthermore, we investigate pharmacological options for treating associated symptoms, lack targeted medications core ASD symptoms. Finally, present evidence highlighting positive effects on developmental outcomes, advocating individualized treatment plans enhance well-being children with ASD. comprehensive overview aims inform ongoing research clinical practices.
Language: Английский
Citations
1
Trends in Pharmacological Sciences, Journal Year: 2023, Volume and Issue: 44(12), P. 963 - 977
Published: Nov. 6, 2023
Language: Английский
Citations
1
bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown
Published: April 8, 2024
Abstract Background Fragile X syndrome (FXS) is the leading monogenic cause of Autism. Seizures, hyperactivity, and anxiety are common symptoms FXS. No broadly effective support option currently exists for FXS, drug development has suffered many failures in clinical trials based on promising preclinical findings. Thus, translational biomarkers treatment outcomes needed. Recently electroencephalography (EEG) been proposed as a biomarker Being X-linked, FXS more prevalent males than females, there exist significant phenotype differences between females with Recent studies involving male participants rodent models have identified an increase absolute gamma EEG power, while alpha power found to be either decreased or unchanged. However, not enough research female patients models. In addition, studying activity young crucial better understanding disorder’s effects brain development. Therefore, we aim compare signal wild-type (WT) fmr1 knockout (KO) mice at juvenile stage. Methods Frontal-parietal differential was recorded using stand-alone Open-Source Electrophysiology Recording system Rodents (OSERR). three different conditions: a) subject’s home cage arenas b) light dark test C) open field test. Absolute relative well phase-amplitude coupling were computed each condition. Results our study, alpha, beta, increased KO compared WT controls age. Alongside, theta females. Furthermore, Discussion Conclusion Comparing reported changes models, results indicated presence sex-based phenotypes Collectively, these findings suggest that sex importance factor consider utilizing
Language: Английский
Citations
0
Research in autism spectrum disorders, Journal Year: 2024, Volume and Issue: 119, P. 102526 - 102526
Published: Nov. 30, 2024
Language: Английский
Citations
0