How early does FA start impacting the body?

This project aims at understanding the defects in the development of the nervous system in FA. In FA, both developmental deficits and progressive degeneration of the nervous system are believed to contribute to the pathology. The loss of proprioception, the perception of the position of the body in space, is the consequence of the loss of neurons within the dorsal root ganglia (DRG), the root of nerves that carry information from the periphery of the body to the central nervous system. The aim of this PhD project is to investigate if frataxin deficiency affects the formation of the DRG and spinal cord during the development of the nervous system. To address this question, Ms. Hermet will use a mouse model of FA that expresses a mutation in frataxin called G127V. This mutation decreases frataxin levels dramatically throughout the life of the mouse, including during development, which is similar to what is seen in FA patients. Ms. Hermet will investigate DRG and spinal cord formation and maturation during embryonic and post-natal development and will analyze the impact of embryonic defects on the appearance of sensory and motor phenotypes in the mouse. Knowledge of the onset and type of neurological damage will allow us to understand FA pathophysiology better and design better treatments.