Developmental, behavioral, and metabolic characterization of the Necdin/Magel2 double knockout mouse

Funding Summary

PWS is not the result of a single gene mutation but rather is caused by the loss of several contiguous genes, some of which interact with each other. In this project, Drs. Bouret and Muscatelli will study a new mouse model that lacks two PWS genes, Magel2 and Necdin. The goal is to understand how Magel2 and Necdin act together to influence brain development and behavior. This project is expected to generate an improved understanding of how the brain and behavioral systems are altered in individuals with PWS and may also provide a more relevant mouse model for testing new drugs for PWS.

Dr. Theresa Strong, Director of Research Programs, shares details on this project in this short video clip. 

 

 

Please find the full webinar for all funded grants of this cycle here

Lay Abstract

The phenotype of patients with Prader-Willi syndrome (PWS) is complex and includes various phases ranging from difficulties feeding at birth to insatiable appetite and behavioral problems during childhood and adulthood. Despite numerous ongoing clinical trials, there is currently no effective treatment for PWS. There is, therefore, an important need to better understand how this syndrome develops in the most appropriate models and use them in “bench to bedside” studies. Pre-clinical animal models have proven to be useful to understand how PWS-related genes impact the brain and behavior. However, most of this research has focused on individual genes, such as Magel2 or Necdin alone. However, PWS is not the result of a single gene mutation but is a complex and multigenic disorder caused by the loss of seven contiguous paternally expressed genes. In addition, many of these genes interact with each other to induce their effects on the body. In this application, we propose to study a new mouse model lacking two genes that also loss in patients with PWS and regulate each other: Magel2 and Necdin. The goal is to understand how Magel2 and Necdin act together to influence brain development and behavior. This project will provide a more relevant understanding of how the brain and behavioral systems are altered in patients with PWS and help develop pre-clinical trials.

Funded Year:

2021

Awarded to:

Sebastian Bouret, Ph.D., and Francoise Muscatelli, Ph.D.

Amount:

$108,000

Institution:

INSERM

Researcher:

Sebastian Bouret, Ph.D., and Francoise Muscatelli, Ph.D.

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