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  1. Article: [No title information]

    Galbiatti, Maria Isabel / Pinheiro, Guilherme Perez / Antunes, Elisa Ribeiro Miranda / Hernandes, Vinicius Verri / Sawaya, Alexandra Christine Helena Frankland

    Planta Medica International Open

    2021  Volume 8, Issue 03, Page(s) e153–e160

    Abstract: Plectranthus neochilus Schltr. is an aromatic species, commonly used for digestive, antispasmodic, and analgesic purposes. Although many studies have reported the chemical composition of its essential oil, ... ...

    Abstract Plectranthus neochilus Schltr. is an aromatic species, commonly used for digestive, antispasmodic, and analgesic purposes. Although many studies have reported the chemical composition of its essential oil, variations in the volatile profile were observed, which may be due to multiple factors linked to growth and field conditions. In order to detect metabolic variations in this species, we employed a GC-MS-based untargeted metabolomics approach analyzing samples of four P. neochilus individuals collected over a year. From all analyses, 24 mass features were detected and 21 were identified according to their respective chromatographic peaks. All features varied among samples, particularly (2E)- hexenal, 3-octanone and δ-3- carene, which showed the highest coefficient of variation percentage in our study. Although the four individuals presented the same peaks in the chromatograms, significant differences in the intensity of specific mass features were detected between individuals throughout the year. Time of sampling did not affect P. neochilus volatile composition; the chemical profile remained constant throughout the day. Seasonal trends were observed for the species. Winter months coincided with a drop in the intensity of most components. Air temperature showed a positive correlation with some feature intensities, while myrcene and α- thujene resulted in a positive and a negative correlation with rainfall, respectively. This study was the first attempt to correlate metabolic variation and environmental factors in P. neochilus. Our approach was successful in identifying the composition and variation of the headspace volatiles of P. neochilus leaves.
    Keywords medicinal plants ; Lamiaceae ; plant metabolomics ; volatile composition ; headspace solid-phase microextraction
    Language English
    Publishing date 2021-12-01
    Publisher Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ZDB-ID 2889172-7
    ISSN 2509-6656 ; 2509-9264
    ISSN (online) 2509-6656
    ISSN 2509-9264
    DOI 10.1055/a-1648-8111
    Database Thieme publisher's database

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  2. Article: Whole Exome Sequencing Enhanced Imputation Identifies 85 Metabolite Associations in the Alpine CHRIS Cohort.

    König, Eva / Rainer, Johannes / Hernandes, Vinicius Verri / Paglia, Giuseppe / Del Greco M, Fabiola / Bottigliengo, Daniele / Yin, Xianyong / Chan, Lap Sum / Teumer, Alexander / Pramstaller, Peter P / Locke, Adam E / Fuchsberger, Christian

    Metabolites

    2022  Volume 12, Issue 7

    Abstract: Metabolites are intermediates or end products of biochemical processes involved in both health and disease. Here, we take advantage of the well-characterized Cooperative Health Research in South Tyrol (CHRIS) study to perform an exome-wide association ... ...

    Abstract Metabolites are intermediates or end products of biochemical processes involved in both health and disease. Here, we take advantage of the well-characterized Cooperative Health Research in South Tyrol (CHRIS) study to perform an exome-wide association study (ExWAS) on absolute concentrations of 175 metabolites in 3294 individuals. To increase power, we imputed the identified variants into an additional 2211 genotyped individuals of CHRIS. In the resulting dataset of 5505 individuals, we identified 85 single-variant genetic associations, of which 39 have not been reported previously. Fifteen associations emerged at ten variants with >5-fold enrichment in CHRIS compared to non-Finnish Europeans reported in the gnomAD database. For example, the CHRIS-enriched ETFDH stop gain variant p.Trp286Ter (rs1235904433-hexanoylcarnitine) and the MCCC2 stop lost variant p.Ter564GlnextTer3 (rs751970792-carnitine) have been found in patients with glutaric acidemia type II and 3-methylcrotonylglycinuria, respectively, but the loci have not been associated with the respective metabolites in a genome-wide association study (GWAS) previously. We further identified three gene-trait associations, where multiple rare variants contribute to the signal. These results not only provide further evidence for previously described associations, but also describe novel genes and mechanisms for diseases and disease-related traits.
    Language English
    Publishing date 2022-06-29
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2662251-8
    ISSN 2218-1989
    ISSN 2218-1989
    DOI 10.3390/metabo12070604
    Database MEDical Literature Analysis and Retrieval System OnLINE

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