Objective: To explore valproic acid (VPA) as a potentially beneficial drug in cellular and worm models of oculopharyngeal muscular dystrophy (OPMD).
Methods: Using a combination of live cell imaging and biochemical measures, we evaluated the potential protective effect of VPA in a stable C2C12 muscle cell model of OPMD, in lymphoblastoid cell lines derived from patients with OPMD and in a transgenic OPMD model expressing human mutant PABPN1.
Results: We demonstrated that VPA protects against the toxicity of mutant PABPN1. Of note, we found that VPA confers its long-term protective effects on C2C12 cell survival, proliferation, and differentiation by increasing the acetylated level of histones. Furthermore, VPA enhances the level of histone acetylation in lymphoblastoid cell lines derived from patients with OPMD. Moreover, treatment of nematodes with moderate concentrations of VPA significantly improved the motility of the Alanines worms.
Conclusions: Our results suggest that VPA helps to counteract OPMD-related phenotypes in the cellular and disease models.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105050 | PMC |
| http://dx.doi.org/10.1212/WNL.0000000000005942 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Investigating the Relationship Between Anti-seizure Medications and Bleeding Disorders: A Comprehensive Review of the Current Literature.
Drugs Real World Outcomes
January 2025
Kabul University of Medical Sciences, Kabul, Afghanistan.
Anti-seizure medications (ASMs) are specific types of anticonvulsants used to treat epileptic seizures. However, several studies have shown an association between ASMs and an increased risk of hematological disorders, such as thrombocytopenia, aplastic anemia, and platelet function disorders leading to prolonged bleeding times. This review explores the existing literature on this topic, investigating a wide variety of ASMs, ranging from first-generation medications to newer ones.
View Article and Find Full Text PDFDysregulation of neural tube vascular development as an aetiological factor in autism spectrum disorder: Insights from valproic acid exposure.
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 PDFMonitoring of the trough concentration of valproic acid in pediatric epilepsy patients: a machine learning-based ensemble model.
Front Pharmacol
December 2024
Department of Pharmacy, The First Affiliated Hospital, Fujian Medical University, Fuzhou, China.
Article Synopsis
- This study developed a machine learning ensemble model for monitoring valproic acid (VPA) in pediatric epilepsy patients to improve clinical accuracy in treatment.
- The model utilized data from 252 patients, using various algorithms like Gradient Boosting Regression Trees and Random Forest Regression, achieving high relative accuracy (87.8%) and low error rates.
- Key factors affecting VPA levels included platelet count and daily dose, indicating the model's potential to enhance clinical decision-making in VPA management.
Late-Onset Idiopathic Generalized Epilepsy Manifesting With De Novo Late-Onset Absence Status Epilepticus After COVID-19 Infection: A Case Report.
Cureus
November 2024
Department of Epileptology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, JPN.
Herein, we present a case of idiopathic generalized epilepsy (IGE) manifesting as de novo late-onset absence status epilepticus (ASE) following mild coronavirus disease 2019 (COVID-19). A woman in her 40s presented with persistent 3-5.5 Hz generalized spike-wave complexes (SWCs) on electroencephalography (EEG).
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!