Interlaboratory Coverage Test on Plant Food Bioactive Compounds and their Metabolites by Mass Spectrometry-Based Untargeted Metabolomics.

Bioactive compounds present in plant-based foods, and their metabolites derived from gut microbiota and endogenous metabolism, represent thousands of chemical structures of potential interest for human nutrition and health. State-of-the-art analytical methodologies, including untargeted metabolomics based on high-resolution mass spectrometry, are required for the profiling of these compounds in complex matrices, including plant food materials and biofluids. The aim of this project was to compare the analytical coverage of untargeted metabolomics methods independently developed and employed in various European platforms. In total, 56 chemical standards representing the most common classes of bioactive compounds spread over a wide chemical space were selected and analyzed by the participating platforms (n = 13) using their preferred untargeted method. The results were used to define analytical criteria for a successful analysis of plant food bioactives. Furthermore, they will serve as a basis for an optimized consensus method

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

Inherited retinal diseases (IRDs), defined by dysfunction or progressive loss of photoreceptors, are disorders characterized by elevated heterogeneity, both at the clinical and genetic levels. Our main goal was to address the genetic landscape of IRD in the largest cohort of Spanish patients reported to date. A retrospective hospital-based cross-sectional study was carried out on 6089 IRD affected individuals (from 4403 unrelated families), referred for genetic testing from all the Spanish autonomous communities. Clinical, demographic and familiar data were collected from each patient, including family pedigree, age of appearance of visual symptoms, presence of any systemic findings and geographical origin. Genetic studies were performed to the 3951 families with available DNA using different molecular techniques. Overall, 53.2% (2100/3951) of the studied families were genetically characterized, and 1549 different likely causative variants in 142 genes were identified. The most common phenotype encountered is retinitis pigmentosa (RP) (55.6% of families, 2447/4403). The most recurrently mutated genes were PRPH2, ABCA4 and RS1 in autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) NON-RP cases, respectively; RHO, USH2A and RPGR in AD, AR and XL for non-syndromic RP; and USH2A and MYO7A in syndromic IRD. Pathogenic variants c.3386G > T (p.Arg1129Leu) in ABCA4 and c.2276G > T (p.Cys759Phe) in USH2A were the most frequent variants identified. Our study provides the general landscape for IRD in Spain, reporting the largest cohort ever presented. Our results have important implications for genetic diagnosis, counselling and new therapeutic strategies to both the Spanish population and other related populations.This work was supported by the Instituto de Salud Carlos III (ISCIII) of the Spanish Ministry of Health (FIS; PI16/00425 and PI19/00321), Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER, 06/07/0036), IIS-FJD BioBank (PT13/0010/0012), Comunidad de Madrid (CAM, RAREGenomics Project, B2017/BMD-3721), European Regional Development Fund (FEDER), the Organización Nacional de Ciegos Españoles (ONCE), Fundación Ramón Areces, Fundación Conchita Rábago and the University Chair UAM-IIS-FJD of Genomic Medicine. Irene Perea-Romero is supported by a PhD fellowship from the predoctoral Program from ISCIII (FI17/00192). Ionut F. Iancu is supported by a grant from the Comunidad de Madrid (CAM, PEJ-2017-AI/BMD7256). Marta del Pozo-Valero is supported by a PhD grant from the Fundación Conchita Rábago. Berta Almoguera is supported by a Juan Rodes program from ISCIII (JR17/00020). Pablo Minguez is supported by a Miguel Servet program from ISCIII (CP16/00116). Marta Corton is supported by a Miguel Servet program from ISCIII (CPII17/00006). The funders played no role in study design, data collection, data analysis, manuscript preparation and/or publication decisions

Linseed, microalgae or fish oil dietary supplementation affects performance and quality characteristics of light lambs

<p>The aim of this work was to improve the fatty acid profile of meat from light lamb, frequently reared in Spain and in other Mediterranean countries. A total of 44 light lambs fed different n-3 polyunsaturated fatty acids sources were studied: control (C) (palm oil), extruded linseed (L), extruded linseed mixed with microalgae (LM) and fish oil (FO). The productive performance from 14.7 to 26.2 kg of live weights and meat quality characteristics during refrigerated storage were assessed. Lambs fed FO showed lower feed intake (<em>p</em> &lt;0.001), average daily gain (<em>p</em> &lt;0.001) and higher feed conversion ratio (<em>p</em> &lt;0.001) than lambs from the other treatments. Fish oil meat had the lowest (<em>p</em> &lt;0.01) protein proportion and the highest (<em>p</em> &lt;0.001) C20:5n-3, C22:5n-3 and C22:6n-3 proportions, while L or LM produced the highest (<em>p</em> &lt;0.001) C18:3n-3 deposition. Fish oil meat had higher (<em>p</em> &lt;0.05) L* and lower (<em>p</em> &lt;0.001) a* than meats from the other treatments. After 7 days of storage, FO meat showed the highest TBARS (<em>p</em> &lt;0.001), while C meat showed similar value to 0 days of storage. Additionally, FO underwent higher microbial growth after 7 days of storage as compared to the other treatments. Dietary supplementation with L and LM leads to C18:3n-3 meat enrichment and to a microbial load and colour characteristics similar to those of C, without adverse effect on lamb performance. However the use of FO improves the fatty acid profile of meat, but negatively affects lamb performance and meat quality.</p

Linseed, microalgae or fish oil dietary supplementation affects performance and quality characteristics of light lambs

The aim of this work was to improve the fatty acid profile of meat from light lamb, frequently reared in Spain and in other Mediterranean countries. A total of 44 light lambs fed different n-3 polyunsaturated fatty acids sources were studied: control (C) (palm oil), extruded linseed (L), extruded linseed mixed with microalgae (LM) and fish oil (FO). The productive performance from 14.7 to 26.2 kg of live weights and meat quality characteristics during refrigerated storage were assessed. Lambs fed FO showed lower feed intake (p < 0.001), average daily gain (p < 0.001) and higher feed conversion ratio (p < 0.001) than lambs from the other treatments. Fish oil meat had the lowest (p < 0.01) protein proportion and the highest (p < 0.001) C20:5n-3, C22:5n-3 and C22:6n-3 proportions, while L or LM produced the highest (p < 0.001) C18:3n-3 deposition. Fish oil meat had higher (p < 0.05) L* and lower (p < 0.001) a* than meats from the other treatments. After 7 days of storage, FO meat showed the highest TBARS (p < 0.001), while C meat showed similar value to 0 days of storage. Additionally, FO underwent higher microbial growth after 7 days of storage as compared to the other treatments. Dietary supplementation with L and LM leads to C18:3n-3 meat enrichment and to a microbial load and colour characteristics similar to those of C, without adverse effect on lamb performance. However the use of FO improves the fatty acid profile of meat, but negatively affects lamb performance and meat qualit

Interlaboratory Coverage Test on Plant Food Bioactive Compounds and their Metabolites by Mass Spectrometry-Based Untargeted Metabolomics

Bioactive compounds present in plant-based foods, and their metabolites derived from gut microbiota and endogenous metabolism, represent thousands of chemical structures of potential interest for human nutrition and health. State-of-the-art analytical methodologies, including untargeted metabolomics based on high-resolution mass spectrometry, are required for the profiling of these compounds in complex matrices, including plant food materials and biofluids. The aim of this project was to compare the analytical coverage of untargeted metabolomics methods independently developed and employed in various European platforms. In total, 56 chemical standards representing the most common classes of bioactive compounds spread over a wide chemical space were selected and analyzed by the participating platforms (n = 13) using their preferred untargeted method. The results were used to define analytical criteria for a successful analysis of plant food bioactives. Furthermore, they will serve as a basis for an optimized consensus method