Next Article in Journal
Increased Dicarbonyl Stress as a Novel Mechanism of Multi-Organ Failure in Critical Illness
Previous Article in Journal
Mechanisms of Regulation of the Chemokine-Receptor Network
Article Menu
Issue 2 (February) cover image

Export Article

Open AccessArticle
Int. J. Mol. Sci. 2017, 18(2), 344;

Rett Syndrome: A Focus on Gut Microbiota

Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy
Institute of Biomedical Technologies, National Research Council, 20090 Segrate, Italy
Child Neuropsychiatry Unit, Santi Paolo Carlo Hospital, 20142 Milan, Italy
Department of Food, Environmental and Nutritional Sciences, Università degli Studi di Milano, 20133 Milan, Italy
Authors to whom correspondence should be addressed.
Academic Editor: Kurt A. Jellinger
Received: 15 December 2016 / Revised: 25 January 2017 / Accepted: 27 January 2017 / Published: 7 February 2017
(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
Full-Text   |   PDF [2896 KB, uploaded 7 February 2017]   |  


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 in Bacteroidaceae, Clostridium spp., and Sutterella spp., and a slight depletion in Ruminococcaceae. 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. View Full-Text
Keywords: Rett syndrome; microbiota; short-chain fatty acids; diet Rett syndrome; microbiota; short-chain fatty acids; diet

Graphical abstract

This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

Supplementary material


Share & Cite This Article

MDPI and ACS Style

Borghi, E.; Borgo, F.; Severgnini, M.; Savini, M.N.; Casiraghi, M.C.; Vignoli, A. Rett Syndrome: A Focus on Gut Microbiota. Int. J. Mol. Sci. 2017, 18, 344.

Show more citation formats Show less citations formats

Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.

Related Articles

Article Metrics

Article Access Statistics



[Return to top]
Int. J. Mol. Sci. EISSN 1422-0067 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top