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Effect of mutations in the TBC1D24 protein associated with DOORS syndrome on mitochondrial dynamics

Description du projet

Mutations in the TBC1D24 protein cause DOORS syndrome associated with deafness, onycho-osteodystrophy, mental retardation and seizures in affected individuals. Although TBC1D24 plays a role in vesicular transport, its exact role and the mechanism explaining its impact on DOORS syndrome remain to be elucidated, making it difficult to develop treatments. Our recent data in collaboration with Philippe Campeau (Ste-Justine) suggest that TBC1D24 is present in the sites of interactions between mitochondria and the endoplasmic reticulum (MAMs) from where it regulates mitochondrial dynamics, suggesting a potential role of TBC1D24 in the function of mitochondria. This possibility will be explored by pooling the expertise of Dr. Germain (mitochondria) and Dr. Campeau (TBC1D24), in order to better understand how mutations in TBC1D24 lead to DOORS syndrome. We will therefore functionally characterize the effect of TBC1D24 variants associated with DOORS syndrome on mitochondria, the endoplasmic reticulum and their contact sites. TBC1D24 mutations affect many children in Quebec, leading to intellectual disability, epilepsy and movement disorders. Our work will make it possible to better understand the consequences of TBC1D24 mutations and to possibly test new therapies and propose new treatments.

Équipe de recherche

Name: Sara Benhammouda,M.Sc
Supervisor: Marc Germain (UQTR)
Laureate: Doctoral scholarship 2022

 

 

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