Preclinical Testing of the Effects of Diet and FMRP on Gut and Brain Barrier Integrity in a Mouse Model of Fragile X

Abstract

The proposed research project addresses the Fiscal Year 2022 Peer Reviewed Medical Research Program Topic Areas of Fragile X Syndrome (FXS) and Nutrition Optimization. FXS is a developmental disability caused by a mutation in the FMR1 gene on the X-chromosome, which results in loss of expression of fragile X messenger ribonucleoprotein (FMRP). FMRP is a messenger RNA (mRNA) binding protein that plays pivotal roles in the transport, localization, and expression of hundreds of mRNAs. FXS is characterized by low IQ, autistic-like behavior, and seizures. A critical gap in medical care for persons with FXS is a viable, mechanistic-based therapy that translates between preclinical and clinical research. Recent literature indicates worse neurological and metabolic outcomes (seizures, autism, increased body weight) in mouse and/or human models of FXS as a function of diet. Thus, early-life exposures, such as diet, may exacerbate disease outcomes. This Department of Defense (DOD) Discovery Award application is innovative in proposing to test for an FMRP- and tight junction-mediated mechanism underlying gastrointestinal (GI) and brain barrier function in FXS model mice as well as testing for diet-induced effects on gut barrier integrity. The goal is to determine the effects of pro- and anti-convulsive diets, i.e., soy- and casein-based single-source diets, on gut barrier structure and function in wild-type and Fmr1KO littermate mice. The rationale is that loss of FMRP contributes to leaky gut syndrome through a tight junction-mediated mechanism affected by diet and that leaky gut contributes to brain dysfunction. This research has potential to provide a novel therapeutic target, tight junctions, and repurposing of experimental Celiac disease drugs that targe tight junctions for the treatment of FXS.

Document Details

Document Type
DoD Grant Award
Publication Date
Jan 04, 2024
Source ID
HT94252310076

Entities

People

  • Cara J Westmark

Organizations

  • United States Army
  • University of Wisconsin–Madison

Tags

Fields of Study

  • Biology

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