31 research outputs found

    A Review of the Tools Used for Marine Monitoring in the UK: Combining Historic and Contemporary Methods with Modeling and Socioeconomics to Fulfill Legislative Needs and Scientific Ambitions

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    Marine environmental monitoring is undertaken to provide evidence that environmental management targets are being met. Moreover, monitoring also provides context to marine science and over the last century has allowed development of a critical scientific understanding of the marine environment and the impacts that humans are having on it. The seas around the UK are currently monitored by targeted, impact-driven, programmes (e.g., fishery or pollution based monitoring) often using traditional techniques, many of which have not changed significantly since the early 1900s. The advent of a new wave of automated technology, in combination with changing political and economic circumstances, means that there is currently a strong drive to move toward a more refined, efficient, and effective way of monitoring. We describe the policy and scientific rationale for monitoring our seas, alongside a comprehensive description of the types of equipment and methodology currently used and the technologies that are likely to be used in the future. We contextualize the way new technologies and methodologies may impact monitoring and discuss how whole ecosystems models can give an integrated, comprehensive approach to impact assessment. Furthermore, we discuss how an understanding of the value of each data point is crucial to assess the true costs and benefits to society of a marine monitoring programme

    The V471A polymorphism in autophagy-related gene ATG7 modifies age at onset specifically in Italian Huntington disease patients

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    The cause of Huntington disease (HD) is a polyglutamine repeat expansion of more than 36 units in the huntingtin protein, which is inversely correlated with the age at onset of the disease. However, additional genetic factors are believed to modify the course and the age at onset of HD. Recently, we identified the V471A polymorphism in the autophagy-related gene ATG7, a key component of the autophagy pathway that plays an important role in HD pathogenesis, to be associated with the age at onset in a large group of European Huntington disease patients. To confirm this association in a second independent patient cohort, we analysed the ATG7 V471A polymorphism in additional 1,464 European HD patients of the “REGISTRY” cohort from the European Huntington Disease Network (EHDN). In the entire REGISTRY cohort we could not confirm a modifying effect of the ATG7 V471A polymorphism. However, analysing a modifying effect of ATG7 in these REGISTRY patients and in patients of our previous HD cohort according to their ethnic origin, we identified a significant effect of the ATG7 V471A polymorphism on the HD age at onset only in the Italian population (327 patients). In these Italian patients, the polymorphism is associated with a 6-years earlier disease onset and thus seems to have an aggravating effect. We could specify the role of ATG7 as a genetic modifier for HD particularly in the Italian population. This result affirms the modifying influence of the autophagic pathway on the course of HD, but also suggests population-specific modifying mechanisms in HD pathogenesis

    Identification of genetic variants associated with Huntington's disease progression: a genome-wide association study

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    Background Huntington's disease is caused by a CAG repeat expansion in the huntingtin gene, HTT. Age at onset has been used as a quantitative phenotype in genetic analysis looking for Huntington's disease modifiers, but is hard to define and not always available. Therefore, we aimed to generate a novel measure of disease progression and to identify genetic markers associated with this progression measure. Methods We generated a progression score on the basis of principal component analysis of prospectively acquired longitudinal changes in motor, cognitive, and imaging measures in the 218 indivduals in the TRACK-HD cohort of Huntington's disease gene mutation carriers (data collected 2008–11). We generated a parallel progression score using data from 1773 previously genotyped participants from the European Huntington's Disease Network REGISTRY study of Huntington's disease mutation carriers (data collected 2003–13). We did a genome-wide association analyses in terms of progression for 216 TRACK-HD participants and 1773 REGISTRY participants, then a meta-analysis of these results was undertaken. Findings Longitudinal motor, cognitive, and imaging scores were correlated with each other in TRACK-HD participants, justifying use of a single, cross-domain measure of disease progression in both studies. The TRACK-HD and REGISTRY progression measures were correlated with each other (r=0·674), and with age at onset (TRACK-HD, r=0·315; REGISTRY, r=0·234). The meta-analysis of progression in TRACK-HD and REGISTRY gave a genome-wide significant signal (p=1·12 × 10−10) on chromosome 5 spanning three genes: MSH3, DHFR, and MTRNR2L2. The genes in this locus were associated with progression in TRACK-HD (MSH3 p=2·94 × 10−8 DHFR p=8·37 × 10−7 MTRNR2L2 p=2·15 × 10−9) and to a lesser extent in REGISTRY (MSH3 p=9·36 × 10−4 DHFR p=8·45 × 10−4 MTRNR2L2 p=1·20 × 10−3). The lead single nucleotide polymorphism (SNP) in TRACK-HD (rs557874766) was genome-wide significant in the meta-analysis (p=1·58 × 10−8), and encodes an aminoacid change (Pro67Ala) in MSH3. In TRACK-HD, each copy of the minor allele at this SNP was associated with a 0·4 units per year (95% CI 0·16–0·66) reduction in the rate of change of the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score, and a reduction of 0·12 units per year (95% CI 0·06–0·18) in the rate of change of UHDRS Total Functional Capacity score. These associations remained significant after adjusting for age of onset. Interpretation The multidomain progression measure in TRACK-HD was associated with a functional variant that was genome-wide significant in our meta-analysis. The association in only 216 participants implies that the progression measure is a sensitive reflection of disease burden, that the effect size at this locus is large, or both. Knockout of Msh3 reduces somatic expansion in Huntington's disease mouse models, suggesting this mechanism as an area for future therapeutic investigation

    Commonwealth SIDS and UK Overseas Territories sustainable fisheries programmes: An overview of projects and benefits of official development assistance funding

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    In recent years, Official Development Assistance (ODA) funding has decreased for sustainable fisheries projects worldwide. However, the UK Government has committed to ringfencing 0.7% GDP to international development assistance to support a large range of programmes worldwide including, where appropriate, sustainable fisheries and aquaculture capacity building in Overseas Territories and the Commonwealth. This is with the aim of reducing poverty, increasing resilience in the fisheries sector to climate change impacts and increasing food security. The primary objective of this paper is to demonstrate the significant support by UK Government to the Commonwealth Small Island Developing States (SIDS) and UK Overseas Territories (OT) and the impacts of such interventions. This support is illustrated through an introduction to the Commonwealth Marine Economies programme and the Blue Belt programme. In this paper the emerging trends for ODA support are set out, then the importance of fisheries to a selection of ODA-eligible states is highlighted. Finally, illustrative examples of projects from two key UK Government programmes in Commonwealth states and UK Overseas Territories that demonstrate a wide range of potential capacity building support activities and derived benefits to the states are summarised. We explain how activities to sustainably develop the fisheries sector in Commonwealth Small Island Developing States (SIDS) and UK Overseas Territories (OT) enhance biodiversity protection and create opportunities to support ‘Blue Growth’ (the long-term strategy to support sustainable growth in the marine sectors)

    Copernicus Marine Service Ocean State Report, Issue 5

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    Demersal species play a fundamental role in fisheries, thus understanding their distribution and abundance through bottom trawl surveys is crucial for stock and fisheries management. Oceanographic (e.g. biogeochemical, physical) and fishing covariates might be considered, in addition to spatio-temporal variables (latitute, longitude, depth, year and month), to better explain trawl survey data. Here, we analyse biomass indices (kg/km2) for European hake, common sole, mantis shrimp, red mullet and common cuttlefish from scientific trawl surveys carried out in the Adriatic Sea and the Western Ionian Sea. We used three different Generalised Additive Model (GAM) approaches (Gaussian, Tweedie and Delta) to fit and predict species biomass distribution. In order to evaluate trade-offs in using different covariates, we compared the results obtained from GAM approaches based only on spatiotemporal variables and GAMs including also oceanographic and fishing effort covariates. The Delta-GAM approach performed better for European hake, mantis shrimp and common cuttlefish, while GAMs based on Gaussian and Tweedie were performing better for the red mullet and common sole, respectively. The results highlighted that adding specific oceanographic and effort covariates to spatiotemporal variables improved the performances of spatial distribution models especially for European hake, mantis shrimp and red mullet. Significant additional explanatory variables were bottom temperature, bottom dissolved oxygen, salinity, particulate organic carbon, and fishing effort for European hake; the same variables and pH for mantis shrimp; chlorophyll-a, pH, sea surface temperature, bottom dissolved oxygen, nitrate and effort for the red mullet; phosphate and salinity for common sole; bottom temperature, bottom dissolved oxygen, and phosphate for the common cuttlefish. The findings highlight that more accurate estimates of spatial distribution of demersal species biomass from trawl survey data can generally be obtained by integrating oceanographic variables and effort in GAMs approaches with potential impacts on stock assessment and essential fish habitats identification

    β-defensin genomic copy number does not influence the age of onset in huntington’s disease

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