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Causal relationship between gut microbiota and muscular dystrophy: A Mendelian randomization analysis
Xinyu Jin1, Ran Jin1, Wenjuan Xia2
1Department of Pediatrics, The Second Affiliated Hospital, Nanjing Medical University, Nanjing, PR China.
Medicine
|November 15, 2025
Summary
This study found specific gut bacteria, Desulfovibrionaceae and Lachnospiraceae, may increase muscular dystrophy (MD) risk. Conversely, Clostridiales might offer protection, suggesting gut health interventions for MD.
Area of Science:
- Genetics
- Microbiology
- Neurology
Background:
- Muscular dystrophy (MD) is a group of inherited muscle disorders.
- The gut microbiome's role in systemic diseases is under investigation.
- Causal links between gut microbiota and MD are not well-established.
Purpose of the Study:
- To investigate the potential causal relationship between gut microbiota composition and MD.
- To identify specific gut bacteria associated with increased or decreased risk of MD.
Main Methods:
- Utilized a 2-sample Mendelian randomization (MR) analysis.
- Employed gut microbiota data from a European cohort (n=7738) and MD data from a Finnish biobank (n=453,733).
- Performed inverse variance weighted (IVW) analysis with sensitivity tests (leave-one-out, Cochran's Q, MR-Egger).
Main Results:
- Desulfovibrionaceae and Lachnospiraceae were significantly associated with increased MD risk (OR > 1).
- Clostridiales demonstrated a protective association with MD risk (OR < 1).
- Sensitivity analyses confirmed no significant bias or horizontal pleiotropy.
Conclusions:
- This study presents the first evidence suggesting a causal link between specific gut bacteria (Desulfovibrionaceae, Lachnospiraceae) and higher MD risk.
- Clostridiales may play a protective role in MD.
- Targeting gut microbiota could represent a novel therapeutic avenue for managing MD.
