Assessment of the gut bacterial microbiome and metabolome of girls and women with Rett Syndrome.

<h4>Background</h4>Gastrointestinal problems affect the health and quality of life of individuals with Rett syndrome (RTT) and pose a medical hardship for their caregivers. We hypothesized that the variability in the RTT phenotype contributes to the dysbiosis of the gut microbiome and me...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Santosh Thapa, Alamelu Venkatachalam, Nabeel Khan, Mohammed Naqvi, Miriam Balderas, Jessica K Runge, Anthony Haag, Kathleen M Hoch, Daniel G Glaze, Ruth Ann Luna, Kathleen J Motil
Formato: article
Lenguaje:EN
Publicado: Public Library of Science (PLoS) 2021
Materias:
R
Q
Acceso en línea:https://doaj.org/article/232372eb776e44c49e47fc33ba90da56
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
id oai:doaj.org-article:232372eb776e44c49e47fc33ba90da56
record_format dspace
spelling oai:doaj.org-article:232372eb776e44c49e47fc33ba90da562021-11-25T06:19:17ZAssessment of the gut bacterial microbiome and metabolome of girls and women with Rett Syndrome.1932-620310.1371/journal.pone.0251231https://doaj.org/article/232372eb776e44c49e47fc33ba90da562021-01-01T00:00:00Zhttps://doi.org/10.1371/journal.pone.0251231https://doaj.org/toc/1932-6203<h4>Background</h4>Gastrointestinal problems affect the health and quality of life of individuals with Rett syndrome (RTT) and pose a medical hardship for their caregivers. We hypothesized that the variability in the RTT phenotype contributes to the dysbiosis of the gut microbiome and metabolome in RTT, predisposing these individuals to gastrointestinal dysfunction.<h4>Objectives</h4>We characterized the gut bacterial microbiome and metabolome in girls and young women with RTT (n = 44) and unaffected controls (n = 21), and examined the relation between the composition of the microbiome and variations in the RTT phenotype.<h4>Methods</h4>Demographics and clinical information, including growth and anthropometric measurements, pubertal status, symptoms, clinical severity score, bowel movement, medication use, and dietary intakes were collected from the participants. Fecal samples were collected for analysis of the gut microbiome using Illumina MiSeq-based next-generation sequencing of the 16S rRNA gene followed by bioinformatics analysis of microbial composition, diversity, and community structure. Selected end-products of microbial protein metabolism were characterized by liquid chromatography-mass spectrometry.<h4>Results</h4>The gut bacterial microbiome differed within the RTT cohort based on pubertal status (p<0.02) and clinical severity scores (p<0.02) of the individuals and the type of diet (p<0.01) consumed. Although the composition of the gut microbiome did not differ between RTT and unaffected individuals, concentrations of protein end-products of the gut bacterial metabolome, including γ-aminobutyric acid (GABA) (p<0.001), tyrosine (p<0.02), and glutamate (p<0.06), were lower in the RTT cohort. Differences in the microbiome within RTT groups, based on symptomatic anxiety, hyperventilation, abdominal distention, or changes in stool frequency and consistency, were not detected.<h4>Conclusions</h4>Although variability in the RTT phenotype contributes to the dysbiosis of the gut microbiome, we presently cannot infer causality between gut bacterial dysbiosis and gastrointestinal dysfunction. Nevertheless, alterations in the gut metabolome may provide clues to the pathophysiology of gastrointestinal problems in RTT.Santosh ThapaAlamelu VenkatachalamNabeel KhanMohammed NaqviMiriam BalderasJessica K RungeAnthony HaagKathleen M HochDaniel G GlazeRuth Ann LunaKathleen J MotilPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 16, Iss 5, p e0251231 (2021)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Santosh Thapa
Alamelu Venkatachalam
Nabeel Khan
Mohammed Naqvi
Miriam Balderas
Jessica K Runge
Anthony Haag
Kathleen M Hoch
Daniel G Glaze
Ruth Ann Luna
Kathleen J Motil
Assessment of the gut bacterial microbiome and metabolome of girls and women with Rett Syndrome.
description <h4>Background</h4>Gastrointestinal problems affect the health and quality of life of individuals with Rett syndrome (RTT) and pose a medical hardship for their caregivers. We hypothesized that the variability in the RTT phenotype contributes to the dysbiosis of the gut microbiome and metabolome in RTT, predisposing these individuals to gastrointestinal dysfunction.<h4>Objectives</h4>We characterized the gut bacterial microbiome and metabolome in girls and young women with RTT (n = 44) and unaffected controls (n = 21), and examined the relation between the composition of the microbiome and variations in the RTT phenotype.<h4>Methods</h4>Demographics and clinical information, including growth and anthropometric measurements, pubertal status, symptoms, clinical severity score, bowel movement, medication use, and dietary intakes were collected from the participants. Fecal samples were collected for analysis of the gut microbiome using Illumina MiSeq-based next-generation sequencing of the 16S rRNA gene followed by bioinformatics analysis of microbial composition, diversity, and community structure. Selected end-products of microbial protein metabolism were characterized by liquid chromatography-mass spectrometry.<h4>Results</h4>The gut bacterial microbiome differed within the RTT cohort based on pubertal status (p<0.02) and clinical severity scores (p<0.02) of the individuals and the type of diet (p<0.01) consumed. Although the composition of the gut microbiome did not differ between RTT and unaffected individuals, concentrations of protein end-products of the gut bacterial metabolome, including γ-aminobutyric acid (GABA) (p<0.001), tyrosine (p<0.02), and glutamate (p<0.06), were lower in the RTT cohort. Differences in the microbiome within RTT groups, based on symptomatic anxiety, hyperventilation, abdominal distention, or changes in stool frequency and consistency, were not detected.<h4>Conclusions</h4>Although variability in the RTT phenotype contributes to the dysbiosis of the gut microbiome, we presently cannot infer causality between gut bacterial dysbiosis and gastrointestinal dysfunction. Nevertheless, alterations in the gut metabolome may provide clues to the pathophysiology of gastrointestinal problems in RTT.
format article
author Santosh Thapa
Alamelu Venkatachalam
Nabeel Khan
Mohammed Naqvi
Miriam Balderas
Jessica K Runge
Anthony Haag
Kathleen M Hoch
Daniel G Glaze
Ruth Ann Luna
Kathleen J Motil
author_facet Santosh Thapa
Alamelu Venkatachalam
Nabeel Khan
Mohammed Naqvi
Miriam Balderas
Jessica K Runge
Anthony Haag
Kathleen M Hoch
Daniel G Glaze
Ruth Ann Luna
Kathleen J Motil
author_sort Santosh Thapa
title Assessment of the gut bacterial microbiome and metabolome of girls and women with Rett Syndrome.
title_short Assessment of the gut bacterial microbiome and metabolome of girls and women with Rett Syndrome.
title_full Assessment of the gut bacterial microbiome and metabolome of girls and women with Rett Syndrome.
title_fullStr Assessment of the gut bacterial microbiome and metabolome of girls and women with Rett Syndrome.
title_full_unstemmed Assessment of the gut bacterial microbiome and metabolome of girls and women with Rett Syndrome.
title_sort assessment of the gut bacterial microbiome and metabolome of girls and women with rett syndrome.
publisher Public Library of Science (PLoS)
publishDate 2021
url https://doaj.org/article/232372eb776e44c49e47fc33ba90da56
work_keys_str_mv AT santoshthapa assessmentofthegutbacterialmicrobiomeandmetabolomeofgirlsandwomenwithrettsyndrome
AT alameluvenkatachalam assessmentofthegutbacterialmicrobiomeandmetabolomeofgirlsandwomenwithrettsyndrome
AT nabeelkhan assessmentofthegutbacterialmicrobiomeandmetabolomeofgirlsandwomenwithrettsyndrome
AT mohammednaqvi assessmentofthegutbacterialmicrobiomeandmetabolomeofgirlsandwomenwithrettsyndrome
AT miriambalderas assessmentofthegutbacterialmicrobiomeandmetabolomeofgirlsandwomenwithrettsyndrome
AT jessicakrunge assessmentofthegutbacterialmicrobiomeandmetabolomeofgirlsandwomenwithrettsyndrome
AT anthonyhaag assessmentofthegutbacterialmicrobiomeandmetabolomeofgirlsandwomenwithrettsyndrome
AT kathleenmhoch assessmentofthegutbacterialmicrobiomeandmetabolomeofgirlsandwomenwithrettsyndrome
AT danielgglaze assessmentofthegutbacterialmicrobiomeandmetabolomeofgirlsandwomenwithrettsyndrome
AT ruthannluna assessmentofthegutbacterialmicrobiomeandmetabolomeofgirlsandwomenwithrettsyndrome
AT kathleenjmotil assessmentofthegutbacterialmicrobiomeandmetabolomeofgirlsandwomenwithrettsyndrome
_version_ 1718413911700537344