Physiopathology analysis of Hereditary Spastic Paraplegia Type 15

Hereditary spastic paraplegias are neurodegenerative diseases that lead to progressive spasticity of lower limbs. Our study layson pathophysiology analysis of spastic paraplegia type 15, to determine the role of SPASTIZIN, the protein encoded by ZFYVE26/SPG15 gene, for which loss-of-function mutations trigger the disease.This translational research project is realized on patient’s cells, to highlight spastizin function, its involvement in cell metabolism and signaling, and then, to reveal potential therapeutic targets. We showed that cells of patients present mitochondrial function impairments, and also a metabolic remodeling. Our work consists in deciphering the link between the mitochondrial alterations reported and the motor neurons’ degeneration observed in SPG15 patients.