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Updated: May 22, 2025
Microbiota Analysis Using Two-step PCR and Next-generation 16S rRNA Gene Sequencing
Published on: October 15, 2019
Influence of CTG repeats from the human DM1 locus on murine gut microbiota
Manijeh Mahdavi1, Tae-Yeon Kim2,3, Karine Prévost1
1Department of Biochemistry and Functional Genomics, Faculty of Medicine and Health Sciences, Université de Sherbrooke, QC J1E 4K8, Canada.
Abstract:
Myotonic Dystrophy type 1 (DM1) is caused by a CTG repeat expansion in the 3' untranslated region of the DMPK gene. This expansion leads to the production of toxic RNA transcripts, which accumulate in the nucleus and interfere with normal RNA processing. DM1 affects a broad range of tissues and systems such as the skeletal muscle, the central nervous system, cardiac, visual, reproductive, and gastrointestinal (GI) system. GI dysfunction is a significant but poorly understood aspect of DM1. Particularly, it is unknown if there are alterations in the intestinal microbiome in DM1. Here, we used a transgenic humanized mouse model (DMSXL) to explore how the gut microbiome may be linked to GI issues in DM1. For this purpose, 68 stool samples from Homozygous, Heterozygous, and Wild-Type (WT) mice were collected. These samples were sequenced by MiSeq and analyzed with DADA2 to generate taxonomic profiles. Our analysis indicated that the overexpression of CTG repeats significantly influences the bacterial structure of the gut microbiome in Homozygous mice samples, especially in terms of the relative abundance of the Patescibacteria and Defferibacterota Phyla. These results provide valuable information about the gut microbiota structure thus improving the understanding of the role of these changes in the pathogenicity as well as GI problems of DM1 patients.
Insights
Myotonic Dystrophy type 1 (DM1) causes toxic RNA buildup, impacting multiple systems. This study reveals DM1 significantly alters the gut microbiome structure in mice, offering insights into GI issues.
Area of Science:
- Genetics
- Microbiology
- Gastroenterology
Background:
- Myotonic Dystrophy type 1 (DM1) results from CTG repeat expansion in the DMPK gene, leading to toxic RNA accumulation.
- DM1 affects multiple organs, including the gastrointestinal (GI) system, but the underlying mechanisms of GI dysfunction remain unclear.
- The potential impact of DM1 on the intestinal microbiome is unknown.
Purpose of the Study:
- To investigate the link between DM1 and alterations in the gut microbiome.
- To explore the influence of CTG repeat expansion on the intestinal bacterial structure in a mouse model.
Main Methods:
- Utilized a transgenic humanized mouse model (DMSXL) for DM1.
- Collected and sequenced 68 stool samples from Homozygous, Heterozygous, and Wild-Type (WT) mice.
- Analyzed sequencing data using DADA2 to generate taxonomic profiles of the gut microbiome.
Main Results:
- Overexpression of CTG repeats significantly altered the gut microbiome structure in Homozygous DM1 mice.
- Specific changes were observed in the relative abundance of Patescibacteria and Defferibacterota Phyla.
- These findings highlight a distinct gut microbiota profile associated with DM1 in the studied model.
Conclusions:
- The gut microbiome is significantly influenced by CTG repeat expansion in DM1.
- Understanding these microbiome alterations may provide insights into DM1 pathogenicity and GI complications.
- Further research into the DM1-gut microbiome axis is warranted to elucidate its role in disease.
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