Gut Microbiome in Angelman syndrome
Gastrointestinal or stomach issues are common in Angelman syndrome. They may lessen the quality of life. However, the reasons for these issues are not known. For example, we do not know if the syndrome leads to these issues. They could also be due to the diet. This study will help us understand how the “gut microbiome” works in Angelman syndrome.
The gut microbiome is made up of bacteria that help break down the food we eat. The types and amounts of these microbes in our gut depend on different things like our diet and environment. Some microbes can make us feel unwell. They can lead to stomach discomfort and can affect behaviors.
This study will help us see how the gut may be related to these issues in Angelman syndrome. To do this, we will compare gut function and diets between children with Angelman syndrome and their siblings. Using this information, we can then design treatments for each child with AS. Depending on the child, we may need to focus on their diet, their gut, or both. When gut health improves, we may see other symptoms also get better. We hope this work will help improve quality of life for people with Angelman syndrome and their families.
Funding for this research was provided by Renee and Fred Pritzker in honor of their son, Jacob.
Why This Study is Important
There is limited research in the intestinal or gut microbiome (GM) and diet of children with AS and how these relate to clinical features. This study examines how the gut microbiome differs in people with AS, and how these differences may be related to clinical features. In addition to measuring the gut microbiome directly, researchers are also collecting data on diet to assess whether differences in the gut microbiome across relatives are driven by AS status, dietary differences secondary to AS status, or a combination of both factors. This information will help us learn whether and how the gut microbiome differs in individuals with AS, which is a first step to exploring therapeutics that could address gut microbiome differences and optimize clinical outcomes.