Williams–Beuren syndrome shapes the gut microbiota metaproteome
Abstract Williams–Beuren syndrome (WBS) is a rare genetic neurodevelopmental disorder with multi-systemic manifestations. The evidence that most subjects with WBS face gastrointestinal (GI) comorbidities, have prompted us to carry out a metaproteomic investigation of their gut microbiota (GM) profil...
| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Nature Portfolio
2023-11-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-023-46052-9 |
| _version_ | 1797636902481821696 |
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| author | Valeria Marzano Stefano Levi Mortera Pamela Vernocchi Federica Del Chierico Chiara Marangelo Valerio Guarrasi Simone Gardini Maria Lisa Dentici Rossella Capolino Maria Cristina Digilio Maddalena Di Donato Iolanda Spasari Maria Teresa Abreu Bruno Dallapiccola Lorenza Putignani |
| author_facet | Valeria Marzano Stefano Levi Mortera Pamela Vernocchi Federica Del Chierico Chiara Marangelo Valerio Guarrasi Simone Gardini Maria Lisa Dentici Rossella Capolino Maria Cristina Digilio Maddalena Di Donato Iolanda Spasari Maria Teresa Abreu Bruno Dallapiccola Lorenza Putignani |
| author_sort | Valeria Marzano |
| collection | DOAJ |
| description | Abstract Williams–Beuren syndrome (WBS) is a rare genetic neurodevelopmental disorder with multi-systemic manifestations. The evidence that most subjects with WBS face gastrointestinal (GI) comorbidities, have prompted us to carry out a metaproteomic investigation of their gut microbiota (GM) profile compared to age-matched healthy subjects (CTRLs). Metaproteomic analysis was carried out on fecal samples collected from 41 individuals with WBS, and compared with samples from 45 CTRLs. Stool were extracted for high yield in bacterial protein group (PG) content, trypsin-digested and analysed by nanoLiquid Chromatography-Mass Spectrometry. Label free quantification, taxonomic assignment by the lowest common ancestor (LCA) algorithm and functional annotations by COG and KEGG databases were performed. Data were statistically interpreted by multivariate and univariate analyses. A WBS GM functional dissimilarity respect to CTRLs, regardless age distribution, was reported. The alterations in function of WBSs GM was primarily based on bacterial pathways linked to carbohydrate transport and metabolism and energy production. Influence of diet, obesity, and GI symptoms was assessed, highlighting changes in GM biochemical patterns, according to WBS subsets’ stratification. The LCA-derived ecology unveiled WBS-related functionally active bacterial signatures: Bacteroidetes related to over-expressed PGs, and Firmicutes, specifically the specie Faecalibacterium prausnitzii, linked to under-expressed PGs, suggesting a depletion of beneficial bacteria. These new evidences on WBS gut dysbiosis may offer novel targets for tailored interventions. |
| first_indexed | 2024-03-11T12:40:44Z |
| format | Article |
| id | doaj.art-7ae17898543048b89c1fe53a2edd7e0e |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-03-11T12:40:44Z |
| publishDate | 2023-11-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-7ae17898543048b89c1fe53a2edd7e0e2023-11-05T12:17:54ZengNature PortfolioScientific Reports2045-23222023-11-0113111410.1038/s41598-023-46052-9Williams–Beuren syndrome shapes the gut microbiota metaproteomeValeria Marzano0Stefano Levi Mortera1Pamela Vernocchi2Federica Del Chierico3Chiara Marangelo4Valerio Guarrasi5Simone Gardini6Maria Lisa Dentici7Rossella Capolino8Maria Cristina Digilio9Maddalena Di Donato10Iolanda Spasari11Maria Teresa Abreu12Bruno Dallapiccola13Lorenza Putignani14Research Unit of Human Microbiome, Bambino Gesù Children’s Hospital, IRCCSResearch Unit of Human Microbiome, Bambino Gesù Children’s Hospital, IRCCSResearch Unit of Human Microbiome, Bambino Gesù Children’s Hospital, IRCCSResearch Unit of Human Microbiome, Bambino Gesù Children’s Hospital, IRCCSResearch Unit of Human Microbiome, Bambino Gesù Children’s Hospital, IRCCSGenomeUp s.r.l.GenomeUp s.r.l.Genetics and Rare Diseases Research Division, Medical Genetics Department, Bambino Gesù Children’s Hospital, IRCCSGenetics and Rare Diseases Research Division, Medical Genetics Department, Bambino Gesù Children’s Hospital, IRCCSGenetics and Rare Diseases Research Division, Medical Genetics Department, Bambino Gesù Children’s Hospital, IRCCSTranslational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCSTranslational Cytogenomics Research Unit, Bambino Gesù Children’s Hospital, IRCCSDivision of Digestive Health and Liver Diseases, Department of Medicine, Crohn’s and Colitis Center, University of Miami Miller School of MedicineScientific Directorate, Bambino Gesù Children’s Hospital, IRCCSUnit of Microbiomics and Research Unit of Human Microbiome, Bambino Gesù Children’s Hospital, IRCCSAbstract Williams–Beuren syndrome (WBS) is a rare genetic neurodevelopmental disorder with multi-systemic manifestations. The evidence that most subjects with WBS face gastrointestinal (GI) comorbidities, have prompted us to carry out a metaproteomic investigation of their gut microbiota (GM) profile compared to age-matched healthy subjects (CTRLs). Metaproteomic analysis was carried out on fecal samples collected from 41 individuals with WBS, and compared with samples from 45 CTRLs. Stool were extracted for high yield in bacterial protein group (PG) content, trypsin-digested and analysed by nanoLiquid Chromatography-Mass Spectrometry. Label free quantification, taxonomic assignment by the lowest common ancestor (LCA) algorithm and functional annotations by COG and KEGG databases were performed. Data were statistically interpreted by multivariate and univariate analyses. A WBS GM functional dissimilarity respect to CTRLs, regardless age distribution, was reported. The alterations in function of WBSs GM was primarily based on bacterial pathways linked to carbohydrate transport and metabolism and energy production. Influence of diet, obesity, and GI symptoms was assessed, highlighting changes in GM biochemical patterns, according to WBS subsets’ stratification. The LCA-derived ecology unveiled WBS-related functionally active bacterial signatures: Bacteroidetes related to over-expressed PGs, and Firmicutes, specifically the specie Faecalibacterium prausnitzii, linked to under-expressed PGs, suggesting a depletion of beneficial bacteria. These new evidences on WBS gut dysbiosis may offer novel targets for tailored interventions.https://doi.org/10.1038/s41598-023-46052-9 |
| spellingShingle | Valeria Marzano Stefano Levi Mortera Pamela Vernocchi Federica Del Chierico Chiara Marangelo Valerio Guarrasi Simone Gardini Maria Lisa Dentici Rossella Capolino Maria Cristina Digilio Maddalena Di Donato Iolanda Spasari Maria Teresa Abreu Bruno Dallapiccola Lorenza Putignani Williams–Beuren syndrome shapes the gut microbiota metaproteome Scientific Reports |
| title | Williams–Beuren syndrome shapes the gut microbiota metaproteome |
| title_full | Williams–Beuren syndrome shapes the gut microbiota metaproteome |
| title_fullStr | Williams–Beuren syndrome shapes the gut microbiota metaproteome |
| title_full_unstemmed | Williams–Beuren syndrome shapes the gut microbiota metaproteome |
| title_short | Williams–Beuren syndrome shapes the gut microbiota metaproteome |
| title_sort | williams beuren syndrome shapes the gut microbiota metaproteome |
| url | https://doi.org/10.1038/s41598-023-46052-9 |
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