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Updated: Jun 27, 2025
Microbiota Analysis Using Two-step PCR and Next-generation 16S rRNA Gene Sequencing
Published on: October 15, 2019
Altered mucosal bacteria and metabolomics in patients with Peutz-Jeghers syndrome
Sui Wang1, Guan-Jun Kou2, Xiao-Han Zhao2
1Department of Respiratory Medicine, The Second Hospital of Shandong University, Jinan, 250033, Shandong, People's Republic of China.
Insights
Peutz-Jeghers syndrome (PJS) patients show altered gut bacteria and metabolism. This study reveals differences in mucosa-associated microbiota and metabolites, offering insights into PJS development.
Area of Science:
- Gastroenterology
- Genetics
- Microbiology
Background:
- Peutz-Jeghers syndrome (PJS) is a rare genetic disorder linked to polyps and cancer susceptibility.
- Research on PJS intestinal microbiota primarily focuses on fecal samples, with limited data on mucosa-associated microbiota.
- Identifying key microbiota and metabolic pathways in PJS is crucial.
Purpose of the Study:
- To analyze the structure and composition of mucosa-associated microbiota in PJS patients.
- To investigate the role of intestinal microbiota disorders and metabolite alterations in PJS pathogenesis.
- To explore potential metabolic biomarkers for PJS.
Main Methods:
- 16S rRNA gene sequencing was used to analyze bacterial composition in 13 PJS patients and 12 controls.
- Differential analysis of intestinal microbiota was conducted from phylum to species level.
- Liquid chromatography-tandem mass spectrometry (LC-MS) identified differentially abundant metabolites in small intestinal mucosa.
Main Results:
- PJS patients exhibited distinct mucosa microflora with lower bacterial biodiversity compared to controls.
- Intestinal mucosal microflora abundance was significantly lower than fecal microflora.
- Significant alterations in lipid, amino acid, carbohydrate, and nucleotide metabolism pathways were observed in PJS patients, linked to tumor development.
Conclusions:
- This study presents the first analysis of mucosa-associated microbiota and metabolites in PJS.
- Findings suggest a potential structural basis for understanding PJS intestinal microecology.
- The identified microbial and metabolic alterations may contribute to PJS development and progression.
Background:
Peutz-Jeghers syndrome (PJS) is a rare genetic disorder characterized by the development of pigmented spots, gastrointestinal polyps and increased susceptibility to cancers. Currently, most studies have investigated intestinal microbiota through fecal microbiota, and there are few reports about mucosa-associated microbiota. It remains valuable to search for the key intestinal microbiota or abnormal metabolic pathways linked to PJS.
Aim:
This study aimed to assess the structure and composition of mucosa-associated microbiota in patients with PJS and to explore the potential influence of intestinal microbiota disorders and metabolite changes on PJS.
Methods:
The bacterial composition was analyzed in 13 PJS patients and 12 controls using 16S rRNA gene sequencing (Illumina MiSeq) for bacteria. Differential analyses of the intestinal microbiota were performed from the phylum to species level. Liquid chromatography-tandem mass spectrometry (LC‒MS) was used to detect the differentially abundant metabolites of PJS patients and controls to identify different metabolites and metabolic biomarkers of small intestinal mucosa samples.
Results:
High-throughput sequencing confirmed the special characteristics and biodiversity of the mucosa microflora in patients with PJS. They had lower bacterial biodiversity than controls. The abundance of intestinal mucosal microflora was significantly lower than that of fecal microflora. In addition, lipid metabolism, amino acid metabolism, carbohydrate metabolism, nucleotide metabolism and other pathways were significantly different from those of controls, which were associated with the development of the enteric nervous system, intestinal inflammation and development of tumors.
Conclusion:
This is the first report on the mucosa-associated microbiota and metabolite profile of subjects with PJS, which may be meaningful to provide a structural basis for further research on intestinal microecology in PJS.
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