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Exploratory Analysis of Gut Microbiota Profile in Duchenne Muscular Dystrophy (DMD) Patients with Intellectual
Chiara Panicucci1, Sara Casalini1, Giovanni Fiorito2
1Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Abstract:
This study investigates the differences in gut microbiota composition between DMD patients with (DMD +) and without (DMD -) intellectual disability (ID) and its potential role in cognitive outcomes. In this study, we assessed the gut microbiota in 50 genetically confirmed DMD patients (median age 13.1 years) using 16S rRNA gene sequencing. Cognitive assessment was performed using the Wechsler Intelligence Scales, with ID defined as an IQ < 70. Stool samples were analyzed, and statistical methods were used to assess alpha- and beta-diversity. Thirty-four percent of patients had ID. No significant differences were found in alpha-diversity or in the Firmicutes/Bacteroidetes ratio. However, beta-diversity analysis revealed significant differences between DMD + and DMD - groups, including, in DMD + , an increased abundance of Propionibacterium and Bifidobacterium, and a reduction in Bulleidia. These bacteria are involved in metabolic pathways that can influence neurological health through the gut-brain axis, particularly via the production of short-chain fatty acids. While these preliminary findings suggest a possible association between gut microbiota profile and cognitive impairment in DMD, further research is needed to explore a causal relationship and consider microbiota-targeted therapeutic strategies.
Insights
Gut microbiota differs in Duchenne muscular dystrophy (DMD) patients with intellectual disability (ID). Specific bacteria changes suggest a link between gut health and cognitive function in DMD, warranting further investigation.
Area of Science:
- Microbiology
- Neuroscience
- Genetics
Background:
- Duchenne muscular dystrophy (DMD) is a genetic disorder affecting muscles.
- Intellectual disability (ID) occurs in a subset of DMD patients.
- The gut-brain axis may influence neurological outcomes in DMD.
Purpose of the Study:
- To compare gut microbiota composition in DMD patients with and without ID.
- To explore the relationship between gut bacteria and cognitive function in DMD.
- To identify potential microbial biomarkers for cognitive impairment in DMD.
Main Methods:
- 16S rRNA gene sequencing of stool samples from 50 DMD patients.
- Cognitive assessment using Wechsler Intelligence Scales (ID defined as IQ < 70).
- Statistical analysis of alpha- and beta-diversity, and bacterial abundance.
Main Results:
- 34% of DMD patients exhibited ID.
- No significant differences in alpha-diversity or Firmicutes/Bacteroidetes ratio.
- Significant differences in beta-diversity: increased Propionibacterium and Bifidobacterium, and reduced Bulleidia in DMD patients with ID.
Conclusions:
- Gut microbiota composition differs between DMD patients with and without ID.
- Specific bacterial changes may be associated with cognitive impairment in DMD via the gut-brain axis.
- Further research is needed to establish causality and explore microbiota-targeted therapies for cognitive outcomes in DMD.
