The gut microbiota, comprising microorganisms residing in the human intestine, is involved in metabolic, immunological and neurological physiological processes. The gut-brain axis is involved in two-way communication between the gut and the brain via neurotransmitters and other metabolites, pointing to the importance of the microbiota in the development of neurodegenerative disorder,s and thus representing a potential therapeutic target.
Duchenne muscular dystrophy (DMD), a rare X-linked genetic severe disease caused by a mutation in the dystrophin gene, is clinically characterized by an irreversible progressive muscle damage and weakness, and presents cognitive impairment in approximately 30% of cases.
We aimed to explore potential differences in the microbiota between DMD with (DMD+) or without intellectual disability (DMD-), to shade light on the possible pathophysiological roles of the microbiota in DMD, and to identify a potential therapeutic target.
Fifty genetically confirmed DMD [median age 14,2 years, min-max: 3-30] were assessed by Wechsler Intelligence Scales for cognitive profiles. Intellectual disability was defined for IQ < 70. For each patient, a stool sample was collected, and processed for metagenomics using 16S rRNA gene sequencing.
We identified differences in the composition of the gut microbiota in DMD patients with cognitive impairment (32%) compared to those without when considering beta diversity, suggesting that the gut microbiota could have a role in the neurological involvement in DMD via modulation of neurotransmitters.