Dissecting the pathogenesis of hereditary spastic paraplegia linked to SPG4 and SPG7 genes

The aim of this thesis is to analyze and characterize the function of two genes involved in Hereditary Spastic Paraplegia, SPG4 and SPG7, to dissect their role in the pathogenesis of the disease. SPG4 encodes for Spastin, a microtubule severing protein involved in cytoskeletal dynamics and subcellular trafficking. On the other hand, SPG7 encodes for Paraplegin, a subunit of the m-AAA protease complex. This protease plays a key role in inner membrane protein quality control and in specific substrate maturation. Studying two genes with different function can shed light on common pathogenetic mechanisms in an etiologically complex disease such as Hereditary Spastic Paraplegia.