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1,4-Dioxane (DXN) is used as solvent in different consumer products including cosmetics, paints, surfactants, and waxes. In addition, DXN is released as an unwanted contaminating by-product as a result of some reactions including ethoxylation of alcohols, which occurs with in personal care products. Consequently, DXN pollution was detected in drinking water and is considered as an environmental problem. At present, the genotoxicity effects attributed to DXN are controversial. The present study using an model organism aimed to determine the toxic/genotoxic, mutagenic/recombinogenic, oxidative damage as evidenced by ROS production, phenotypic alterations as well as behavioral and developmental alterations that are closely related to neuronal functions. Data demonstrated that nontoxic DXN concentration (0.1, 0.25, 0.5, or 1%) induced mutagenic (1%) and recombinogenic (0.1, 0.25, or 0.5%) effects in wing spot test and genotoxicity in hemocytes using comet assay. The nontoxic concentrations of DXN (0.1, 0.25, 0.5, or 1%) significantly increased oxidative stress, climbing behavior, thermal sensivity and abnormal phenotypic alterations. Our findings show that in contrast to exposure, DXN using an model this compound exerts toxic and genotoxic effects. Data suggest that additional studies using other models are thus warranted.
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http://dx.doi.org/10.1080/15287394.2022.2027832 | DOI Listing |
JCI Insight
September 2025
Edinburgh Medical School: Biomedical Sciences & Euan MacDonald Centre for M, University of Edinburgh, Edinburgh, United Kingdom.
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of SMN protein. Several therapeutic approaches boosting SMN are approved for human patients, delivering remarkable improvements in lifespan and symptoms. However, emerging phenotypes, including neurodevelopmental comorbidities, are being reported in some treated SMA patients, indicative of alterations in brain development.
View Article and Find Full Text PDFProc Natl Acad Sci U S A
September 2025
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202.
Retinal ganglion cells (RGCs) are highly compartmentalized neurons whose long axons serve as the sole connection between the eye and the brain. In both injury and disease, RGC degeneration occurs in a similarly compartmentalized manner, with distinct molecular and cellular responses in the axonal and somatodendritic regions. The goal of this study was to establish a microfluidic-based platform to investigate RGC compartmentalization in both health and disease states.
View Article and Find Full Text PDFMetabolomics
September 2025
Department of Biochemistry, University of Oxford, South Parks Road, Oxford, OX1 3QU, UK.
Introduction: Knockout of the Fmo5 gene in mice led to a lean, slow-ageing phenotype characterised by the presence of 2,3-butanediol isomers in their urine and plasma. Oral treatment of wildtype mice with 2,3-butanediol led to a low cholesterol, low epididymal fat phenotype.
Objectives: Determine if significant, heterozygous coding variations in human FMO5 would give rise to similar clinical and metabolic phenotypes in humans, as in C57BL/6J mice with knockout of the Fmo5 gene and in particular, increased excretion of 2,3-butanediol.
Ann Clin Transl Neurol
September 2025
Department of Neurology, Brain Centre Utrecht, University Medical Centre Utrecht, Utrecht, the Netherlands.
Objective: We investigated the effects of C9orf72 mutation carriership on peripheral nerve excitability in asymptomatic individuals from families with a history of C9orf72 amyotrophic lateral sclerosis (ALS) and patients.
Methods: We included 47 asymptomatic individuals from families with a history of C9orf72 ALS, of whom 23 were carriers (C9) and 24 were noncarriers (C9). In addition, 11 C9 and 110 C9 ALS patients and 50 healthy controls participated.
JCI Insight
September 2025
Department of Pharmacology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Patients with Dravet syndrome (DS) present with severe, spontaneous seizures and ataxia. While most patients with DS have variants in the sodium channel Nav1.1 α subunit gene, SCN1A, variants in the sodium channel β1 subunit gene, SCN1B, are also linked to DS.
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