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Planchart, A.

Publications and source records attributed to Planchart, A..

6 recordsLinked to original sources

High-Content Screening Identifies Dithiocarbamates As A Class Of Chemicals That Disrupts TDP-43 Proteostasis

Transactive response DNA-binding protein 43 (TDP-43) aggregation and loss of function are hallmark features of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) among other neurodegenerative diseases. Despite epidemiological evidence linking environmental exposures to neurodegeneration, few toxicants have been directly associated with neurodegeneration. Here, we performed a high-content imaging screen, using a library of over a thousand chemical compounds that are considered high risk for human exposure and identified 21 toxicants that drive TDP-43 aggregation. Among the top chemical hits, five belonged to the dithiocarbamate (DTC) class of thiol-reactive compounds including the agricultural pesticides thiram and ziram. Thiram directly promoted TDP-43 cysteine oxidation and intermolecular crosslinking, whereas ziram induced TDP-43 aggregation via zinc imbalance and enhanced oxidative stress, suggesting DTCs disrupt redox homeostasis. In primary neurons and human iPSC-derived neurons, DTCs led to TDP-43 aggregation and prominent splicing defects consistent with loss of TDP-43 function. In exposed zebrafish, DTCs impaired TDP-43 function and triggered widespread transcriptional changes reflected by perturbed stress response and metabolic signatures. By combining TDP-43 loss of function mutations with chemical exposures, we observed accelerated TDP-43 loss of function and chemical-induced aggregation, supporting a multiple hit mechanism driving TDP-43 dysfunction. Together, these findings identify DTCs, particularly those used as agricultural pesticides, as dominant modifiers of TDP-43 proteostasis and identify redox imbalance and zinc homeostasis as a central molecular mechanism linking toxicant exposure to TDP-43 proteinopathy.

neuroscience↗

Developmental Toxicity and Lethality of Structurally Diverse PFAS in Zebrafish

Per-and polyfluoroalkyl substances (PFAS) are ubiquitous environmental contaminants that have been associated with adverse health effects in highly exposed populations. Manufacturers have taken steps to replace toxic long-chain perfluoroalkyl acids (PFAAs) with short-chain PFAAs and perfluoroether acids (PFEAs). There is little to no toxicity data for many of these chemicals. Most of the data that are available are taken from studies that do not account for the pH of highly concentrated PFAS solutions, resulting in highly acidic conditions that do not accurately reflect real-world exposures. The goal of this study was to evaluate the lethality and developmental toxicity of 17 structurally diverse PFAS in zebrafish in a pH-neutral environment. We then compared results to determine the impacts of chain length, head group, and ether linkages on toxicity. The potency of PFAS to induce mortality and developmental toxicity endpoints increased with chain length, and sulfonic acids were more potent than carboxylic acids. The inclusion of ether oxygens was associated with reduced potency relative to PFAAs with equal chain length and head group. Perfluorooctane sulfonic acid (PFOS) was the most potent compound, followed by perfluoroundecanoic acid (PFUnDA) and perfluorododecanoic acid (PFDoDA). Short-chain compounds perfluoro-2-methoxyacetic acid (PFMOAA) and perfluorobutanoic acid (PFBA) were the least potent. These data were used to construct a multiple linear regression model for PFAS potency. Failed swim bladder inflation was the most sensitive developmental toxicity endpoint for all assessed chemicals. Other common phenotypes included spinal curvature, edema, craniofacial malformations, and ocular malformations. Ocular malformations were more common in response to sulfonic acids. No other phenotypes exhibited significant structural specificity. Our study provides new toxicity data for a diverse set of PFAS under environmentally relevant conditions. Future studies should be expanded to include more branched structures and head groups not present in our testing set to allow for improved understanding of how other structural features impact toxicity.

pharmacology and toxicology↗

Trophic Transfer of Perfluoroalkyl Acids in a Periphyton-Mayfly-Zebrafish Food Chain

Per-and polyfluoroalkyl substances (PFAS) are ubiquitous contaminants in freshwater ecosystems. Many PFAS are incorporated into food webs, with potential effects on ecological and human health. However, PFAS incorporation into the base of aquatic food webs remains poorly understood. The goal of this study was to quantify the uptake and trophic transfer of both legacy and current use PFAS compounds using a simulated freshwater food chain in a lab setting. Natural periphytic biofilms were placed into trays containing equimolar binary aqueous PFAS mixtures at environmentally relevant concentrations for five days. Following the initial exposure period, newly hatched mayfly larvae were introduced into each tray to feed on periphyton for most of their larval development. The mature larvae were then fed to zebrafish. All water and biota samples contained detectable levels of the tested PFAS. All PFAS were more concentrated in periphyton than in water, and four of six PFAS were further concentrated in mayfly larvae relative to periphyton. PFDA was the most accumulative in all biota. PFAS concentrations in zebrafish were significantly correlated with those in larval mayflies. Assimilation efficiencies in zebrafish were high (>70%) for all compounds. Bioaccumulation of PFAS in periphyton and mayflies was positively correlated with log KOW and number of carbons.

ecology↗

Creation and Validation of the First Infinium DNA Methylation Array for the Human Imprintome

BackgroundDifferentially methylated imprint control regions (ICRs) regulate the monoallelic expression of imprinted genes. Their epigenetic dysregulation by environmental exposures throughout life results in the formation of common chronic diseases. Unfortunately, existing Infinium methylation arrays lack the ability to profile these regions adequately. Whole genome bisulfite sequencing (WGBS) is the unique method able to profile these regions, but it is very expensive and it requires not only a high coverage but it is also computationally intensive to assess those regions. FindingsTo address this deficiency, we developed a custom methylation array containing 22,819 probes. Among them, 9,757 probes map to 1,088 out of the 1,488 candidate ICRs recently described. To assess the performance of the array, we created matched samples processed with the Human Imprintome array and WGBS, which is the current standard method for assessing the methylation of the Human Imprintome. We compared the methylation levels from the shared CpG sites and obtained a mean R2 = 0.569. We also created matched samples processed with the Human Imprintome array and the Infinium Methylation EPIC v2 array and obtained a mean R2 = 0.796. Furthermore, replication experiments demonstrated high reliability (ICC: 0.799-0.945). ConclusionsOur custom array will be useful for replicable and accurate assessment, mechanistic insight, and targeted investigation of ICRs. This tool should accelerate the discovery of ICRs associated with a wide range of diseases and exposures, and advance our understanding of genomic imprinting and its relevance in development and disease formation throughout the life course.

genetics↗

Cadmium Exposure Increases The Risk Of Juvenile Obesity: A Human And Zebrafish Comparative Study

OBJECTIVEHuman obesity is a complex metabolic disorder disproportionately affecting people of lower socioeconomic strata, and ethnic minorities, especially African Americans and Hispanics. Although genetic predisposition and a positive energy balance are implicated in obesity, these factors alone do not account for the excess prevalence of obesity in lower socioeconomic populations. Therefore, environmental factors, including exposure to pesticides, heavy metals, and other contaminants, are agents widely suspected to have obesogenic activity, and they also are spatially correlated with lower socioeconomic status. Our study investigates the causal relationship between exposure to the heavy metal, cadmium (Cd), and obesity in a cohort of children and a zebrafish model of adipogenesis.\n\nDESIGNAn extensive collection of first trimester maternal blood samples obtained as part of the Newborn Epigenetics Study (NEST) were analyzed for the presence Cd, and these results were cross analyzed with the weight-gain trajectory of the children through age five years. Next, the role of Cd as a potential obesogen was analyzed in an in vivo zebrafish model.\n\nRESULTSOur analysis indicates that the presence of Cd in maternal blood during pregnancy is associated with increased risk of juvenile obesity in the offspring, independent of other variables, including lead (Pb) and smoking status. Our results are recapitulated in a zebrafish model, in which exposure to Cd at levels approximating those observed in the NEST study is associated with increased adiposity.\n\nCONCLUSIONOur findings identify Cd as potential human obesogen. Moreover, these observations are recapitulated in a zebrafish model, suggesting that the underlying mechanisms may be evolutionarily conserved, and that zebrafish may be a valuable model for uncovering pathways leading to Cd-mediated obesity in human populations.

epidemiology↗

Cadmium Disrupts Vestibular Function by Interfering with Otolith Formation

Cadmium (Cd2+) is a transition metal found ubiquitously in the earths crust and is extracted in the production of other metals such as copper, lead, and zinc1,2. Human exposure to Cd2+ occurs through food consumption, cigarette smoking, and the combustion of fossil fuels. Cd2+ has been shown to be nephrotoxic, neurotoxic, and osteotoxic, and is a known carcinogen. Animal studies and epidemiological studies have linked prenatal Cd2+ exposure to hyperactivity and balance disorders although the mechanisms remain unknown. In this study we show that zebrafish developmentally exposed to Cd2+ exhibit abnormal otolith development and show an increased tendency to swim in circles, observations that are consistent with an otolith-mediated vestibular defect, in addition to being hyperactive. We also demonstrate that the addition of calcium rescues otolith malformation and reduces circling behavior but has no ameliorating effect on hyperactivity, suggesting that hyperactivity and balance disorders in human populations exposed to Cd are manifestations of separate underlying molecular pathways.

developmental biology↗