Phenylketonuria and gut microbiota : a controlled study based on next-generation sequencing

Detalhes bibliográficos
Autor(a) principal: Oliveira, Felipe Pinheiro de
Data de Publicação: 2016
Outros Autores: Mendes, Roberta Hack, Dobbler, Priscila Caroline Thiago, Mai, Volker, Pylro, Victor Satler, Waugh, Sheldon G., Vairo, Filippo Pinto e, Refosco, Lilia Farret, Roesch, Luiz Fernando Wurdig, Schwartz, Ida Vanessa Doederlein
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFRGS
Texto Completo: http://hdl.handle.net/10183/165870
Resumo: Phenylketonuria (PKU) is an inborn error of metabolism associated with high blood levels of phenylalanine (Phe). A Phe-restricted diet supplemented with L-amino acids is the main treatment strategy for this disease; if started early, most neurological abnormalities can be prevented. The healthy human gut contains trillions of commensal bacteria, often referred to as the gut microbiota. The composition of the gut microbiota is known to be modulated by environmental factors, including diet. In this study, we compared the gut microbiota of 8 PKU patients on Phe-restricted dietary treatment with that of 10 healthy individuals. The microbiota were characterized by 16S rRNA sequencing using the Ion Torrent™platform. The most dominant phyla detected in both groups were Bacteroidetes and Firmicutes. PKU patients showed reduced abundance of the Clostridiaceae, Erysipelotrichaceae, and Lachnospiraceae families, Clostridiales class, Coprococcus, Dorea, Lachnospira, Odoribacter, Ruminococcus and Veillonella genera, and enrichment of Prevotella, Akkermansia, and Peptostreptococcaceae. Microbial function prediction suggested significant differences in starch/glucose and amino acid metabolism between PKU patients and controls. Together, our results suggest the presence of distinct taxonomic groups within the gut microbiome of PKU patients, which may be modulated by their plasma Phe concentration. Whether our findings represent an effect of the disease itself, or a consequence of the modified diet is unclear.
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spelling Oliveira, Felipe Pinheiro deMendes, Roberta HackDobbler, Priscila Caroline ThiagoMai, VolkerPylro, Victor SatlerWaugh, Sheldon G.Vairo, Filippo Pinto eRefosco, Lilia FarretRoesch, Luiz Fernando WurdigSchwartz, Ida Vanessa Doederlein2017-08-29T02:33:54Z20161932-6203http://hdl.handle.net/10183/165870001044741Phenylketonuria (PKU) is an inborn error of metabolism associated with high blood levels of phenylalanine (Phe). A Phe-restricted diet supplemented with L-amino acids is the main treatment strategy for this disease; if started early, most neurological abnormalities can be prevented. The healthy human gut contains trillions of commensal bacteria, often referred to as the gut microbiota. The composition of the gut microbiota is known to be modulated by environmental factors, including diet. In this study, we compared the gut microbiota of 8 PKU patients on Phe-restricted dietary treatment with that of 10 healthy individuals. The microbiota were characterized by 16S rRNA sequencing using the Ion Torrent™platform. The most dominant phyla detected in both groups were Bacteroidetes and Firmicutes. PKU patients showed reduced abundance of the Clostridiaceae, Erysipelotrichaceae, and Lachnospiraceae families, Clostridiales class, Coprococcus, Dorea, Lachnospira, Odoribacter, Ruminococcus and Veillonella genera, and enrichment of Prevotella, Akkermansia, and Peptostreptococcaceae. Microbial function prediction suggested significant differences in starch/glucose and amino acid metabolism between PKU patients and controls. Together, our results suggest the presence of distinct taxonomic groups within the gut microbiome of PKU patients, which may be modulated by their plasma Phe concentration. Whether our findings represent an effect of the disease itself, or a consequence of the modified diet is unclear.application/pdfengPLoS ONE. San Francisco. Vol. 11, no. 6 (June 2016), e0157513, 15 p.Microbioma gastrointestinalSequenciamento de nucleotídeos em larga escalaMetagenômicaFenilcetonúriasRNA ribossômico 16SPhenylketonuria and gut microbiota : a controlled study based on next-generation sequencingEstrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSORIGINAL001044741.pdf001044741.pdfTexto completo (inglês)application/pdf1534191http://www.lume.ufrgs.br/bitstream/10183/165870/1/001044741.pdf96d5028136cf9551de431ce6bb954ceaMD51TEXT001044741.pdf.txt001044741.pdf.txtExtracted Texttext/plain49818http://www.lume.ufrgs.br/bitstream/10183/165870/2/001044741.pdf.txt3046ada9d290b736928d565560206821MD52THUMBNAIL001044741.pdf.jpg001044741.pdf.jpgGenerated Thumbnailimage/jpeg1889http://www.lume.ufrgs.br/bitstream/10183/165870/3/001044741.pdf.jpgca9ca38dfce6ede02a884a104bf964deMD5310183/1658702023-05-25 03:25:29.005056oai:www.lume.ufrgs.br:10183/165870Repositório InstitucionalPUBhttps://lume.ufrgs.br/oai/requestlume@ufrgs.bropendoar:2023-05-25T06:25:29Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false
dc.title.pt_BR.fl_str_mv Phenylketonuria and gut microbiota : a controlled study based on next-generation sequencing
title Phenylketonuria and gut microbiota : a controlled study based on next-generation sequencing
spellingShingle Phenylketonuria and gut microbiota : a controlled study based on next-generation sequencing
Oliveira, Felipe Pinheiro de
Microbioma gastrointestinal
Sequenciamento de nucleotídeos em larga escala
Metagenômica
Fenilcetonúrias
RNA ribossômico 16S
title_short Phenylketonuria and gut microbiota : a controlled study based on next-generation sequencing
title_full Phenylketonuria and gut microbiota : a controlled study based on next-generation sequencing
title_fullStr Phenylketonuria and gut microbiota : a controlled study based on next-generation sequencing
title_full_unstemmed Phenylketonuria and gut microbiota : a controlled study based on next-generation sequencing
title_sort Phenylketonuria and gut microbiota : a controlled study based on next-generation sequencing
author Oliveira, Felipe Pinheiro de
author_facet Oliveira, Felipe Pinheiro de
Mendes, Roberta Hack
Dobbler, Priscila Caroline Thiago
Mai, Volker
Pylro, Victor Satler
Waugh, Sheldon G.
Vairo, Filippo Pinto e
Refosco, Lilia Farret
Roesch, Luiz Fernando Wurdig
Schwartz, Ida Vanessa Doederlein
author_role author
author2 Mendes, Roberta Hack
Dobbler, Priscila Caroline Thiago
Mai, Volker
Pylro, Victor Satler
Waugh, Sheldon G.
Vairo, Filippo Pinto e
Refosco, Lilia Farret
Roesch, Luiz Fernando Wurdig
Schwartz, Ida Vanessa Doederlein
author2_role author
author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Oliveira, Felipe Pinheiro de
Mendes, Roberta Hack
Dobbler, Priscila Caroline Thiago
Mai, Volker
Pylro, Victor Satler
Waugh, Sheldon G.
Vairo, Filippo Pinto e
Refosco, Lilia Farret
Roesch, Luiz Fernando Wurdig
Schwartz, Ida Vanessa Doederlein
dc.subject.por.fl_str_mv Microbioma gastrointestinal
Sequenciamento de nucleotídeos em larga escala
Metagenômica
Fenilcetonúrias
RNA ribossômico 16S
topic Microbioma gastrointestinal
Sequenciamento de nucleotídeos em larga escala
Metagenômica
Fenilcetonúrias
RNA ribossômico 16S
description Phenylketonuria (PKU) is an inborn error of metabolism associated with high blood levels of phenylalanine (Phe). A Phe-restricted diet supplemented with L-amino acids is the main treatment strategy for this disease; if started early, most neurological abnormalities can be prevented. The healthy human gut contains trillions of commensal bacteria, often referred to as the gut microbiota. The composition of the gut microbiota is known to be modulated by environmental factors, including diet. In this study, we compared the gut microbiota of 8 PKU patients on Phe-restricted dietary treatment with that of 10 healthy individuals. The microbiota were characterized by 16S rRNA sequencing using the Ion Torrent™platform. The most dominant phyla detected in both groups were Bacteroidetes and Firmicutes. PKU patients showed reduced abundance of the Clostridiaceae, Erysipelotrichaceae, and Lachnospiraceae families, Clostridiales class, Coprococcus, Dorea, Lachnospira, Odoribacter, Ruminococcus and Veillonella genera, and enrichment of Prevotella, Akkermansia, and Peptostreptococcaceae. Microbial function prediction suggested significant differences in starch/glucose and amino acid metabolism between PKU patients and controls. Together, our results suggest the presence of distinct taxonomic groups within the gut microbiome of PKU patients, which may be modulated by their plasma Phe concentration. Whether our findings represent an effect of the disease itself, or a consequence of the modified diet is unclear.
publishDate 2016
dc.date.issued.fl_str_mv 2016
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dc.relation.ispartof.pt_BR.fl_str_mv PLoS ONE. San Francisco. Vol. 11, no. 6 (June 2016), e0157513, 15 p.
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