Rett Syndrome: A Focus on Gut Microbiota.
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder affecting 1 in 10,000 live female births. Changes in microbiota composition, as observed in other neurological disorders such as autism spectrum disorders, may account for several symptoms typically associated with RTT. We studied the relationship between disease phenotypes and microbiome by analyzing diet, gut microbiota, and short-chain fatty acid (SCFA) production. We enrolled eight RTT patients and 10 age- and sex-matched healthy women, all without dietary restrictions. The microbiota was characterized by 16S rRNA gene sequencing, and SCFAs concentration was determined by gas chromatographic analysis. The RTT microbiota showed a lower α diversity, an enrichment inBacteroidaceae,Clostridiumspp., andSutterellaspp., and a slight depletion inRuminococcaceae. Fecal SCFA concentrations were similar, but RTT samples showed slightly higher concentrations of butyrate and propionate, and significant higher levels in branched-chain fatty acids. Daily caloric intake was similar in the two groups, but macronutrient analysis showed a higher protein content in RTT diets. Microbial function prediction suggested in RTT subjects an increased number of microbial genes encoding for propionate and butyrate, and amino acid metabolism. A full understanding of these critical features could offer new, specific strategies for managing RTT-associated symptoms, such as dietary intervention or pre/probiotic supplementation.
Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy. elisa.borghi@unimi.it.
Elisa
E
Borghi
Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy. francesca.borgo@unimi.it.
Francesca
F
Borgo
Institute of Biomedical Technologies, National Research Council, 20090 Segrate, Italy. marco.severgnini@itb.cnr.it.
Marco
M
Severgnini
Child Neuropsychiatry Unit, Santi Paolo Carlo Hospital, 20142 Milan, Italy. miriam.savini@unimi.it.
Miriam Nella
MN
Savini
Department of Food, Environmental and Nutritional Sciences, Università degli Studi di Milano, 20133 Milan, Italy. maria.casiraghi@unimi.it.
Maria Cristina
MC
Casiraghi
Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy. aglaia.vignoli@unimi.it.|Child Neuropsychiatry Unit, Santi Paolo Carlo Hospital, 20142 Milan, Italy. aglaia.vignoli@unimi.it.
Aglaia
A
Vignoli
D000293:Adolescent; D000328:Adult; D000483:Alleles; D001419:Bacteria / Q000145:classification / Q000378:metabolism; D004032:Diet; D064806:Dysbiosis; D004734:Energy Metabolism; D005260:Female; D000069196:Gastrointestinal Microbiome; D006801:Humans; D053858:Metabolic Networks and Pathways; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D015518:Rett Syndrome / Q000175:diagnosis* / Q000209:etiology*; D012307:Risk Factors; D012720:Severity of Illness Index; D055815:Young Adult
D051783:Methyl-CpG-Binding Protein 2
Rett syndrome; diet; microbiota; short-chain fatty acids