Assessment of early somatosensory impairment in the KIKO mouse model of Friedreich's Ataxia

Alterations in the normal development of the nervous system may explain some of the earliest pathology in Friedreich’s ataxia (FRDA). Clinical and histological evidence suggests that FRDA patients may suffer from an impaired neurodevelopmental process that may occur during embryonic development or during the early years after birth. No research studies have directly examined the consequences of frataxin reduction on the maturation of the nervous system during perinatal and early postnatal stages in mouse models of the disease. Dr. Magrane and his group have obtained experimental evidence using a well-characterized FRDA mouse model that frataxin deficiency causes a delay in the appearance of sensory and motor functions in neonates. Based on these novel observations, they aim to further investigate pathology in FRDA mouse pups affecting the nervous system structure and function and to study the molecular mechanisms involved, with a focus on mitochondria. Successful completion of these studies will not only be important for our understanding of the pathogenesis of FRDA but will also validate the use of this model to evaluate the impact of early therapeutic approaches targeting the sensorimotor system.