Characterization of gut microbiome and mycobiome in patients with Rett syndrome

Rett syndrome (RTT) is a neurodegenerative disorder caused by a mutation in MECP2. To date, the mechanism that trigger the disease have yet to be explained. Gut microbiome controls CNS activities through endocrine, metabolic and immune pathways and yeast infections shift IDO’s activity leading to a reduction of kineurenine that act as a neuroprotective agent. In addition, kineurenine is affected by the immune system, dysfunction of which has been implicated in the etiology of ASD. The hypothesis we want to test is if alterations in microbiota-mediated immunomodulation are reflected in alterations in microbiota-mediated neuromodulation. We characterized the gut microbiome/mycobiome of RTT patients through culture based and metagenomics approaches. Stool sample from 50 RTT patient and 30 HS have been collected. DNA has been extracted and submitted to metagenomic analysis in order to analyze bacterial and fungal communities’ structure. We discovered C. albicans as significantly more represented in heathy controls with respect to RTT patients. On the contrary, the highly emerging potentially invasive species, Trichosporon spp. and S. cerevisiae have been isolated solely in RTT patients.