Related Experiment Video
Updated: Mar 7, 2026
05:41
Therapeutic Evaluation of Fecal Microbiota Transplantation in an Interleukin 10-Deficient Mouse Model
Published on: April 6, 2022
3.5K
Rett Syndrome: A Focus on Gut Microbiota
Elisa Borghi1, Francesca Borgo2, Marco Severgnini3
1Department of Health Sciences, Università degli Studi di Milano, 20142 Milan, Italy. elisa.borghi@unimi.it.
International Journal of Molecular Sciences
|February 9, 2017
Summary
Rett syndrome (RTT) patients exhibit distinct gut microbiome profiles, including lower diversity and altered bacterial composition. These gut changes may influence RTT symptoms and suggest potential dietary or probiotic interventions.
Area of Science:
- Microbiology
- Neuroscience
- Genetics
Background:
- Rett syndrome (RTT) is a rare X-linked neurodevelopmental disorder impacting female births.
- Microbiota alterations are implicated in neurological disorders, including autism spectrum disorders.
- Understanding the gut microbiome's role in RTT is crucial for symptom management.
Purpose of the Study:
- To investigate the relationship between gut microbiota composition, short-chain fatty acid (SCFA) production, and disease phenotypes in Rett syndrome.
- To compare the gut microbiome and metabolic profiles of RTT patients with healthy controls.
Main Methods:
- 16S rRNA gene sequencing for microbiota characterization.
- Gas chromatographic analysis for fecal SCFA quantification.
- Analysis of dietary intake, including macronutrient composition.
Main Results:
- RTT patients displayed reduced gut microbial alpha diversity.
- Enrichment of Bacteroidaceae, Clostridium spp., and Sutterella spp., with depletion of Ruminococcaceae observed in RTT.
- Elevated levels of butyrate, propionate, and branched-chain fatty acids were found in RTT samples, alongside a higher protein content in their diets.
Conclusions:
- Gut microbiome alterations are associated with Rett syndrome.
- Specific microbial shifts and SCFA profiles in RTT patients suggest potential therapeutic targets.
- Dietary interventions and pre/probiotic supplementation may offer novel strategies for managing RTT symptoms.
Related Concept Videos
01:17Irritable Bowel Syndrome I: Introduction
1.3K
Irritable Bowel Syndrome (IBS) is characterized by functional disturbances in the gastrointestinal system, presenting a cluster of symptoms without evident structural or biochemical abnormalities. It primarily affects the large intestine and may cause abdominal pain, bloating, excessive gas, diarrhea, constipation, or both.
IBS is a chronic condition that can persist over a long period or recur frequently.
The pathogenesis of IBS involves a complex interplay of the following factors:
Altered...
IBS is a chronic condition that can persist over a long period or recur frequently.
The pathogenesis of IBS involves a complex interplay of the following factors:
Altered...
1.3K
01:23Anatomy of the Intestines
89.0K
Although digestion of proteins, carbohydrates, and lipids may begin in the stomach, it is completed in the intestine. The absorption of nutrients, water, and electrolytes from food and drink also occurs in the intestine. The intestines can be divided into two structurally distinct organs—the small and large intestines.
Small Intestines
The small intestine is an ~7 meter-long tube with an inner diameter of just 2.5 cm. Since most nutrients are absorbed here, the inner lining of the...
Small Intestines
The small intestine is an ~7 meter-long tube with an inner diameter of just 2.5 cm. Since most nutrients are absorbed here, the inner lining of the...
89.0K
01:50What is Monogastric Digestion?
76.6K
The human body contains a monogastric digestive system. In a monogastric digestive system, the stomach only contains one chamber in which it digests food. Several other animal species also have monogastric digestive systems, including pigs, horses, dogs, and birds. This chapter, however, focuses on the human digestive system.
76.6K
01:29Bacterial Flora of the Large Intestine
1.8K
The gut microbiome is formed by a vast and diverse community of bacteria that colonizes our large intestine. These bacteria start residing in the gut from birth and continue diversifying throughout life, influenced by factors such as diet, lifestyle, and stress. The gut bacterial community also includes bacteria from food and those that enter the colon through the anus.
The normal gut flora of the colon plays a critical role in generating essential vitamins such as vitamins K, B5, and B7.
The normal gut flora of the colon plays a critical role in generating essential vitamins such as vitamins K, B5, and B7.
1.8K
01:30Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
1.0K
Irritable Bowel Syndrome II: Clinical Features and Diagnostic Evaluation
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
Irritable Bowel Syndrome (IBS) is classified into subtypes based on the predominant bowel habits as determined by the Bristol Stool Form Scale (BSFS). The subtypes are:
1.0K
01:17Chronic Bowel Disorders: Introduction
867
Chronic bowel diseases are a group of long-term conditions affecting the digestive tract, characterized by inflammation and damage to the gut lining. These conditions primarily include irritable bowel syndrome and inflammatory bowel disease.
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
867