Podcast: Rare neurological disorders

I am involved in two different research projects, in both cases focused on functional aspects:

• Chorea-acanthocytosis (ChAc), a rare autosomal-recessive disorder that is characterised by progressive neurodegeneration and red cell acanthocytosis, and
• Developmental dyslexia, the most common of the childhood learning disorders.

In particular, I work on the functional characterisation of the proteins encoded by the genes VPS13A (mutated in ChAc) and KIAA0319 (associated with dyslexia), as well as on similar human proteins.

Little is known about the function of these proteins. Chorein, encoded by gene VPS13A, is a large protein with no known domains. It presents a vesicular-like pattern when over-expressed in mammalian cell lines. KIAA0319 is a highly glycosylated type I membrane protein which contains five PKD domains, and has been reported to be involved in neuronal migration.

My work focuses on learning as much as possible about the basic properties of these proteins, starting with their characterisation in mammalian cell models. We also use a conditional Knock-out mouse model for the KIAA0319-homologous gene to investigate the effects that the deletion of this gene has in mouse brain development.