Phenylketonuria and Gut Microbiota: A Controlled Study Based on Next-Generation Sequencing.

Submitted by Nuzia Santos ([email protected]) on 2017-04-12T19:01:34Z No. of bitstreams: 1 ve_Oliveira_Felipe_Phenylketonuria_CPqRR_2016.pdf: 5478745 bytes, checksum: 1d0d9580be46c56f2b8a9c16a83097e5 (MD5)Approved for entry into archive by Nuzia Santos ([email protected]) on 2017-04-12T19:10:17Z (GMT) No. of bitstreams: 1 ve_Oliveira_Felipe_Phenylketonuria_CPqRR_2016.pdf: 5478745 bytes, checksum: 1d0d9580be46c56f2b8a9c16a83097e5 (MD5)Made available in DSpace on 2017-04-12T19:10:17Z (GMT). No. of bitstreams: 1 ve_Oliveira_Felipe_Phenylketonuria_CPqRR_2016.pdf: 5478745 bytes, checksum: 1d0d9580be46c56f2b8a9c16a83097e5 (MD5) Previous issue date: 2016Universidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Genética e Biologia Molecular. Porto Alegre, RS, Brazil/Hospital de Clínicas de Porto Alegre. Centro de Pesquisa Experimental. Laboratório Basic Research and Advanced Investigations in Neurosciences. Porto Alegre, RS, BrazilUniversidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Genética e Biologia Molecular. Porto Alegre, RS, Brazil/Hospital de Clínicas de Porto Alegre. Centro de Pesquisa Experimental. Laboratório Basic Research and Advanced Investigations in Neurosciences. Porto Alegre, RS, BrazilUniversidade Federal do Pampa. Centro Interdisciplinar de Pesquisas em Biotecnologia–CIP-Biotec. São Gabriel, RS, BrazilUniversity of Florida. Emerging Pathogens Institute. College of Public Health and Health Professions and College of Medicine. Department of Epidemiology. Gainesville, FL, United States of AmericaOswaldo Cruz Fundation. René Rachou Research Centre. Genomics and Computational Biology Group. Belo Horizonte, MG, BrazilUniversity of Florida. Emerging Pathogens Institute. College of Public Health and Health Professions and College of Medicine. Department of Epidemiology. Gainesville, FL, United States of AmericaHospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, BrazilHospital de Clínicas de Porto Alegre. Serviço de Genética Médica. Porto Alegre, RS, BrazilUniversidade Federal do Pampa. Centro Interdisciplinar de Pesquisas em Biotecnologia–CIP-Biotec. São Gabriel, RS, BrazilUniversidade Federal do Rio Grande do Sul. Programa de Pós-Graduação em Genética e Biologia Molecular. Porto Alegre, RS, Brazil/Hospital de Clínicas de Porto Alegre. Centro de Pesquisa Experimental. Laboratório de Pesquisas Básicas e Aplicadas em Neurociencias. Porto Alegre, RS, BrazilPhenylketonuria (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

Soil-Borne Bacterial Structure and Diversity Does Not Reflect Community Activity in Pampa Biome

<div><p>The Pampa biome is considered one of the main hotspots of the world’s biodiversity and it is estimated that half of its original vegetation was removed and converted to agricultural land and tree plantations. Although an increasing amount of knowledge is being assembled regarding the response of soil bacterial communities to land use change, to the associated plant community and to soil properties, our understanding about how these interactions affect the microbial community from the Brazilian Pampa is still poor and incomplete. In this study, we hypothesized that the same soil type from the same geographic region but under distinct land use present dissimilar soil bacterial communities. To test this hypothesis, we assessed the soil bacterial communities from four land-uses within the same soil type by 454-pyrosequencing of 16S rRNA gene and by soil microbial activity analyzes. We found that the same soil type under different land uses harbor similar (but not equal) bacterial communities and the differences were controlled by many microbial taxa. No differences regarding diversity and richness between natural areas and areas under anthropogenic disturbance were detected. However, the measures of microbial activity did not converge with the 16S rRNA data supporting the idea that the coupling between functioning and composition of bacterial communities is not necessarily correlated.</p></div

Microbial biomass C (MBC) and metabolic quotient (qCO₂) from different land uses under the same soil type from the Brazilian Pampa biome.

<p>Means followed by the same letter did not differ statistically between the samples by the Tukey test at 5% probability error.</p

Jackknifed Principal Coordinates plot (PCoA) depicting the clusters of bacterial communities within the soil sample from four land-uses in biome Pampa.

<p>(A) Weighted UniFrac distance metrics; (B) Unweighted UniFrac distance metric. The clusters were generated using a subset of 1716 sequences from each environment. The positions of the points are the average for the jackknife replicates and ellipses around points represent the interquartile range (IQR) for the 1000 jackknife replicates.</p

Total number of high-quality sequences, coverage for taxonomic groups and Phylogenetic Diversity (PD).

*<p>The means did not differ statistically between the samples by the Tukey test at 5% probability error. The PD was calculated at the family level. AP = Acacia plantation; NF = Natural forest; NP = Natural pasture; SF = Soybean field.</p

Frequencies of most abundant phyla (>1% of group sequences) in the phenylketonuria (n = 8) and control (n = 10) groups.

<p>*<i>p</i>-value < 0.05. Top panel represents the average abundance per treatment. Bottom panel represents the average of phyla per patient.</p