Browsing by Issue Date, starting with "2020-11-26"
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- Novel mechanisms causing Familial Hypercholesterolaemia: Functional characterization of variants in the regulatory regions of PCSK9 and LDLR genesPublication . Alves, Ana Catarina; Menezes, JulianeAiM: To define the 5’UTR and promoter regions of the PCSK9 gene, as well as, to perform an in vitro characterization of variants in LDLR and PCSK9 genes in the regulatory regions mentioned above. This project will also contribute to an accurate identification of FH patients allowing for a better patient management.
- 1+MG Coordination GroupPublication . Kok, Ruben; Vicente, AstridThe “1+ Million Genomes” (1+MG) initiative is a cooperation mechanism involving by now 24 countries and was launched on Digital Day 2018. Countries meet on a regular basis in order to make sure that the aim of the 1+MG Declaration - to have at least 1 million sequenced genomes accessible in the EU by 2022 - is achieved. Genomics has the potential to revolutionise healthcare in many ways. It could lead to the development of more targeted personalised medicines, therapies and interventions. It could also enable better diagnostics, boost prevention and make more efficient use of scarce resources. From cancer, to rare diseases, neuro diseases and prevention, genomics can greatly improve health conditions of EU citizens. Equally important, genomics has the potential to improve the effectiveness, accessibility, sustainability and resilience of health systems in the European Union
- Diversity and genetic lineages of environmental staphylococci: a surface water overviewPublication . Silva, Vanessa; Caniça, Manuela; Capelo, José L.; Igrejas, Gilberto; Poeta, PatríciaAntimicrobial resistance in the environmental dimension is one of the greatest challenges and emerging threats. The presence of resistant bacteria and resistance genes in the environment, especially in aquatic systems, has been a matter of growing concern in the past decade. Monitoring the presence of antimicrobial resistance species, in this particular case, Staphylococcus spp., in natural water environments could lead to a better understanding of the epidemiology of staphylococci infections. Thus, the investigation of natural waters as a potential reservoir and vehicle for transmission of these bacteria is imperative. Only a few studies have investigated the prevalence, antimicrobial resistance and genetic lineages of staphylococci in natural waters. Those studies reported a high diversity of staphylococci species and lineages in surface waters. Methicillin-resistant S. aureus were relatively prevalent in surface waters and, as expected, often presented a multidrug-resistant profile. There was a high diversity of S. aureus lineages in surface waters. The presence of S. aureus CC8 and CC5 suggests a human origin. Among the coagulase-negative staphylococci, the most frequently found in natural waters was S. warneri and S. epidermidis. These studies are extremely important to estimate the contribution of the aquatic environment in the spread of pathogenic bacteria.
- Mycotoxins. Task 10.4 - Data analysis including the generation of European reference values (RVs)Publication . Vasco, ElsaHuman Biomonitoring of mycotoxins in Europe: exposure determinants and geographical variability - The objective of the current study is to characterize the current exposure levels of the European population to the mycotoxins DON and FB1 and to identify exposure determinants and characterize geographical variability for these mycotoxins exposure in Europe.
- A role for gene-environment interactions in Autism Spectrum Disorder is supported by variants in genes regulating exposure to environmental factorsPublication . Xavier Santos, JoãoObjective: Identify variants in these genes, in ASD patients
- Redox–Oligomeric State of Peroxiredoxin-2 and Glyceraldehyde-3-Phosphate Dehydrogenase in Obstructive Sleep Apnea Red Blood Cells under Positive Airway Pressure TherapyPublication . Valentim-Coelho, Cristina; Vaz, Fátima; Antunes, Marília; Neves, Sofia; Martins, Inês L.; Osório, Hugo; Feliciano, Amélia; Pinto, Paula; Bárbara, Cristina; Penque, DeborahIn this study, we examined the effect of six months of positive airway pressure (PAP) therapy on Obstructive Sleep Apnea (OSA) red blood cell (RBC) proteome by two dimensional difference gel electrophoresis (2D-DIGE) - based proteomics followed by Western blotting (WB) validation. The discovered dysregulated proteins/proteoforms are associated with cell death, H2O2 catabolic/metabolic process, stress response, and protein oligomerization. Validation by nonreducing WB was performed for peroxiredoxin-2 (PRDX2) and glyceraldehyde-3-phosphate dehydrogenase (GAPDH) by using antibodies against the sulfinylated/sulfonylated cysteine of these proteins to better evaluate their redox-oligomeric states under OSA and/or in response to PAP therapy. The results indicated that the redox-oligomeric state of GAPDH and PRDX2 involving overoxidation by sulfinic/sulfonic acids were differentially modulated in OSA RBC, which might be compromising RBC homeostasis. PAP therapy by restoring this modulation induced a higher oligomerization of overoxidized GAPDH and PRDX2 in some patients that could be associated with eryptosis and the chaperone "gain" of function, respectively. This varied response following PAP may result from the complex interplay between OSA and OSA metabolic comorbidity. Hence, information on the redox status of PRDX2 and GAPDH in RBC will help to better recognize OSA subtypes and predict the therapeutic response in these patients. GAPDH monomer combined with body mass index (BMI) and PRDX2 S-S dimer combined with homeostatic model assessment for insulin resistance (HOMA-IR) showed to be very promising biomarkers to predict OSA and OSA severity, respectively.
- Functional networks of DI3L2 in cancerPublication . García-Moreno, Juan; Matos, Paulo; Romão, LuísaThe DIS3-like 3′-5′ exoribonuclease 2 (DIS3L2) triggers decay in an exosome-independent manner and preferentially degrades RNA species possessing a non-templated oligo-uridine 3’-end tail. It is capable of inducing decay over a variety of RNAs, including mRNAs, rRNAs, miRNAs and other non-coding RNAs. It has been shown that DIS3L2 is involved in cancer-related cellular processes. Nevertheless, its function in tumorigenesis remains largely unexplored. Recently, we and others showed that DIS3L2-mediated decay together with uridylation also participate in nonsense-mediated mRNA decay (NMD), thus revealing a new NMD branch. NMD is a surveillance pathway that recognizes and degrades mRNAs harboring premature translation-termination codons, protecting the cell from potentially harmful truncated proteins. However, NMD also regulates the level of normal and fully functional mRNAs, arising as a mechanism of gene expression regulation. Here, we aim to analyze how DIS3L2 and uridylation regulate the human transcriptome, in order to shed light on how this ribonuclease is related to NMD and how its deregulation contributes to tumorigenesis. For this purpose, high-throughput mRNA sequencing has been performed in the SW480 colorectal cancer cell line depleted of DIS3L2 or DIS3L2 plus terminal uridylyl transferases 4 and 7. Gene ontology analysis over the set of genes up-regulated under those two conditions, show enrichment in molecular functions and biological processes related with cancer, and cell events directly implicated in RNA processing and RNA degradation. Preliminary results on the features of the deregulated transcripts also show significant differences between conditions, an important aspect that is guiding us to determine grades of sensitivities in the decay of DIS3L2-subtrates. Currently, we are unveiling the role of DIS3L2 in oncogenesis and analyzing its substrate specificity.