Williams-Beuren syndrome (WBS) is a multisystem genetic disease caused by the deletion of a region of 1.5-1.8 Mb on chromosome 7q11.23. The elastin gene seems to account for several comorbidities and distinct clinical features such including cardiovascular disease, connective tissue abnormalities, growth retardation, and gastrointestinal (GI) symptoms. Increasing evidence points to alterations in gut microbiota composition as a primary or secondary cause of some GI or extra-intestinal characteristics. In this study, we performed the first exploratory analysis of gut microbiota in WBS patients compared to healthy subjects (CTRLs) using 16S rRNA amplicon sequencing, by investigating the gut dysbiosis in relation to diseases and comorbidities. We found that patients with WBS have significant dysbiosis compared to age-matched CTRLs, characterized by an increase in proinflammatory bacteria such as Pseudomonas, Gluconacetobacter and Eggerthella, and a reduction of anti-inflammatory bacteria including Akkermansia and Bifidobacterium. Microbial biomarkers associated with weight gain, GI symptoms and hypertension were identified. Gut microbiota profiling could represent a new tool that characterise intestinal dysbiosis to complement the clinical management of these patients. In particular, the administration of microbial-based treatments, alongside traditional therapies, could help in reducing or preventing the burden of these symptoms and improve the quality of life of these patients.
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http://dx.doi.org/10.1038/s41598-023-36704-1 | DOI Listing |
Radiol Med
December 2024
Medical Physics Department, Bambino Gesù Children's Hospital, 00165, Rome, Italy.
The gut microbiota emerged as a potential modulator of brain connectivity in health and disease. This systematic review details current evidence on the gut-brain axis and its influence on brain connectivity. The initial set of studies included 532 papers, updated to January 2024.
View Article and Find Full Text PDFAntonie Van Leeuwenhoek
December 2024
School of Biological Sciences, University of Nebraska, Lincoln, NE, 68588-0666, USA.
Larvae from the petroleum oil fly, Helaeomyia petrolei, live in the asphaltene and polyaromatic hydrocarbon rich asphalt seeps of Rancho La Brea, Los Angeles, California. These larvae pass high amounts of viscous asphalt through their digestive system, and their gut microbiota is exposed to these extreme conditions. Environmental stress response mechanisms can co-select for antibiotic resistance, and in the current study we used 16S rRNA and genomic sequencing along with the Comprehensive Antibiotic Resistance Database (CARD) tools to characterize antibiotic resistance profiles from six bacteria previously isolated from the oil fly larval intestinal tract, linking phenotypic and genotypic resistance profiles.
View Article and Find Full Text PDFNutr Rev
December 2024
Integrative Physiology and Pharmacology Unit, Institute of Biomedicine, Faculty of Medicine, University of Turku, 20520 Turku, Finland.
Diet may influence the gut microbiota and subsequently affect the host's health. Recent developments in methods analyzing the composition and function of the gut microbiota allow a deeper understanding of diet-gut microbiota relationships. A state-of-the-art methodology, shotgun metagenomics sequencing, offers a higher taxonomic resolution of the gut microbiota at the bacterial species and strain levels, and more accurate information regarding the functional potential of gut microbiota.
View Article and Find Full Text PDFMamm Genome
December 2024
Department of Urology, The Second Affiliated Hospital of Nanchang University, Nanchang, 330006, China.
The gut microbiota (GM) can affect the immune system, which can lead to a variety of diseases, as confirmed by many studies. However, the exact mechanism by which GM affects kidney stone incidence through the immune system remains unclear. This study used a two-step, two-sample Mendelian randomization (MR) analysis by inverse variance weighting (IVW) method as well as Bayesian weighting (BWMR) to find out how the gut microbiota and inflammatory cytokines contribute to kidney stones, followed by a mediated MR analysis to exploreHow inflammatory cytokines are involved in the connection with the gut microbiota and kidney stones.
View Article and Find Full Text PDFGut Microbes
December 2025
Department of Gastroenterology and Hepatology, General Hospital, Tianjin Medical University, National Key Clinical Specialty, Tianjin Institute of Digestive Diseases, Tianjin Key Laboratory of Digestive Diseases, Tianjin, China.
The initiation and progression of colorectal cancer (CRC) are intimately associated with genetic, environmental and biological factors. (DSV), a sulfate-reducing bacterium, has been found excessive growth in CRC patients, suggesting a potential role in carcinogenesis. However, the precise mechanisms underlying this association remain incompletely understood.
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