25 research outputs found

    Contaminanti nello zooplancton

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    Not availableContaminanti nello zooplancton nell\u27ambito del progetto di ricerca "Indagini su DDT e sostanze pericolose nell\u27ecosistema del Lago Maggiore"

    Inter-laboratory mass spectrometry dataset based on passive sampling of drinking water for non-target analysis

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    Non-target analysis (NTA) employing high-resolution mass spectrometry is a commonly applied approach for the detection of novel chemicals of emerging concern in complex environmental samples. NTA typically results in large and information-rich datasets that require computer aided (ideally automated) strategies for their processing and interpretation. Such strategies do however raise the challenge of reproducibility between and within different processing workflows. An effective strategy to mitigate such problems is the implementation of inter-laboratory studies (ILS) with the aim to evaluate different workflows and agree on harmonized/standardized quality control procedures. Here we present the data generated during such an ILS. This study was organized through the Norman Network and included 21 participants from 11 countries. A set of samples based on the passive sampling of drinking water pre and post treatment was shipped to all the participating laboratories for analysis, using one pre-defined method and one locally (i.e. in-house) developed method. The data generated represents a valuable resource (i.e. benchmark) for future developments of algorithms and workflows for NTA experiments

    De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

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    Purpose: ZMYND8 encodes a multidomain protein that serves as a central interactive hub for coordinating critical roles in transcription regulation, chromatin remodeling, regulation of superenhancers, DNA damage response and tumor suppression. We delineate a novel neurocognitive disorder caused by variants in the ZMYND8 gene. Methods: An international collaboration, exome sequencing, molecular modeling, yeast twohybrid assays, analysis of available transcriptomic data and a knockdown Drosophila model were used to characterize the ZMYND8 variants. Results: ZMYND8 variants were identified in 11 unrelated individuals; 10 occurred de novo and one suspected de novo; 2 were truncating, 9 were missense, of which one was recurrent. The disorder is characterized by intellectual disability with variable cardiovascular, ophthalmologic and minor skeletal anomalies. Missense variants in the PWWP domain of ZMYND8 abolish the interaction with Drebrin and missense variants in the MYND domain disrupt the interaction with GATAD2A. ZMYND8 is broadly expressed across cell types in all brain regions and shows highest expression in the early stages of brain development. Neuronal knockdown of the Drosophila ZMYND8 ortholog results in decreased habituation learning, consistent with a role in cognitive function. Conclusion: We present genomic and functional evidence for disruption of ZMYND8 as a novel etiology of syndromic intellectual disability

    Legacy Dichlorodiphenyltrichloroethane (DDT) Pollution in a River Ecosystem: Sediment Contamination and Bioaccumulation in Benthic Invertebrates

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    Dichlorodiphenyltrichloroethane (DDT) contamination in the Toce River in northern Italy was studied by collecting data from 2016 to 2021 upstream and downstream of a production factory which in the past had discharged technical DDT. Analysis of sediments and of bioaccumulation in different benthic invertebrate taxa (Gammaridae, Diptera, Ephemeroptera Baetidae and Heptageniidae) was carried out to assess the transfer of DDT from sediments to benthic invertebrates and the environmental risk of this legacy pollutant for the river ecosystem. DDT and its metabolites dichlorodiphenyldichloroethylene (DDE) and dichlorodiphenyldichloroethane (DDD), here called DDx, were analyzed by isotope dilution gas chromatography–mass spectrometry (GC-MS/MS). DDx values in sediments in upstream stations (1.14–2.25 ng g−1 1% Organic Carbon) were lower than downstream of the industrial site (5.60–7.60 ng g−1 1% Organic Carbon), often exceeding Sediment Quality Guidelines for total DDx. Peak levels derived from new inputs of parental DDT, as confirmed by fingerprint analysis. Bioaccumulation was higher at downstream sites (up to 5107 ng g−1 lipid weight), confirming the bioavailability of residual DDT as well as active metabolism, with the formation of DDD and DDE. The Biota-Sediment Accumulation Factor evidenced the highest values (over 4.2) for Diptera and Gammaridae, highlighting that invertebrates can transfer contamination from sediments to the trophic chain. Linear regression models were developed to estimate DDx concentrations in benthic invertebrates from DDx concentrations in sediments. However, determination coefficients R2 remained in the range of 0.36–0.51, highlighting the necessity of bioaccumulation analysis to fully estimate environmental risk. The results show that DDT contamination, even if residual, may still represent a risk due to its effective transfer to the trophic chain

    Zooplankton as Mercury Repository in Lake Maggiore (Northern Italy): Biomass Composition and Stable Isotope Analysis

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    Total mercury (THg) and methylmercury (MeHg) concentrations were analyzed in zooplankton (≥450 and ≥850 µm size fractions) collected seasonally over 6 years in Lake Maggiore (Northern Italy), characterized by a legacy mercury contamination. Analysis of δ 15N and δ13C stable isotopes was carried out to trace how taxa with different trophic levels and carbon sources contributed to mercury concentrations and trends. THg ranged between 44–213 µg kg−1 d.w. and MeHg 15–93 µg kg−1 d.w., representing 24–61% of THg. Values showed strong seasonal variations, with peaks in winter, due to the high biomass of predator taxa (Bythotrephes longimanus, Leptodora kindtii) and of Daphnia longispina-galeata gr. A positive correlation between THg and MeHg and δ15N signature was observed. D. longispina-galeata gr. prevailed in both size fractions, substantially contributing to THg and MeHg concentrations. Δ13C signature was strictly bound to lake thermal circulation dynamics. Mercury stock in the zooplankton compartment ranged between 19–140 ng THg m−2 and 6–44 ng MeHg m−2 for the ≥450 µm size fraction and between 2–66 ng THg m−2 and 1–7 ng MeHg m−2 for the ≥850 µm fraction, with the highest values in spring when zooplanktivorous fish actively prey in the pelagic zone. The results highlighted the crucial role of zooplankton as a repository of mercury, easily available to higher trophic levels

    Zooplankton as Mercury Repository in Lake Maggiore (Northern Italy): Biomass Composition and Stable Isotope Analysis

    No full text
    Total mercury (THg) and methylmercury (MeHg) concentrations were analyzed in zooplankton (≥450 and ≥850 µm size fractions) collected seasonally over 6 years in Lake Maggiore (Northern Italy), characterized by a legacy mercury contamination. Analysis of δ 15N and δ13C stable isotopes was carried out to trace how taxa with different trophic levels and carbon sources contributed to mercury concentrations and trends. THg ranged between 44–213 µg kg−1 d.w. and MeHg 15–93 µg kg−1 d.w., representing 24–61% of THg. Values showed strong seasonal variations, with peaks in winter, due to the high biomass of predator taxa (Bythotrephes longimanus, Leptodora kindtii) and of Daphnia longispina-galeata gr. A positive correlation between THg and MeHg and δ15N signature was observed. D. longispina-galeata gr. prevailed in both size fractions, substantially contributing to THg and MeHg concentrations. Δ13C signature was strictly bound to lake thermal circulation dynamics. Mercury stock in the zooplankton compartment ranged between 19–140 ng THg m−2 and 6–44 ng MeHg m−2 for the ≥450 µm size fraction and between 2–66 ng THg m−2 and 1–7 ng MeHg m−2 for the ≥850 µm fraction, with the highest values in spring when zooplanktivorous fish actively prey in the pelagic zone. The results highlighted the crucial role of zooplankton as a repository of mercury, easily available to higher trophic levels
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