Vittorio Maglione- Neurogenetics Lab, IRCCS Neuromed, Pozzilli (IS), Italy
New insights into molecular mechanisms and potential treatments for Huntington’s disease
Huntington disease (HD) is the most common dominantly inherited neurodegenerative disorder, characterized by progressive striatal and cortical neurodegeneration and associated motor, cognitive and behavioural disturbances. HD is a fatal disorder with no cure and no effective therapeutic options.
The disease-causing mutation is a CAG repeat expansion (>36 repeats) within the gene encoding huntingtin (Htt) protein. The precise function of Htt is still under investigation, however when mutated, it exerts a variety of undesirable toxic effects, including the dysregulation of lipid metabolisms.
Over the last 20 years, we have extensively contributed to these findings and demonstrated that the HD is characterize by a profound alteration in the metabolism of (glyco)sphingolipids. Importantly, modulation of the metabolism of these lipids is feasible and exerted beneficial effects in different HD preclinical models.
Collectively, our data provide some new insight into the pathogenic mechanisms underlying HD and provide the evidence for the development of new potential therapeutic options for its treatment.
Bio
I am a neuroscientist with over 25 years of research experience in molecular genetics, molecular and cellular biology and biochemistry and with the use of multiple study models (from primary cells to mouse models) in context of Huntington disease (HD) and other neurological disorders including Parkinson’s disease and Rett Syndrome.
I have completed my PhD in Neurobiology from University of Catania (Italy) and the first postdoctoral studies at Neurological Institute “IRCCS Neuromed” (Italy).
In 2008, I moved to the University of Alberta for a second post doc period. Later, in 2012, thanks to a European “Marie Curie Fellowship”, I re-joined Neuromed Institute where I was appointed as Research Associate. In 2015, I became the Head of “Neurogenetics Lab” at the same Institution.
My major interest is the investigation of the biochemical and genetic mechanisms underling neuronal dysfunctions and neurodegeneration.
Over the last 10 years my research group has contributed to demonstrate that the alterations in the metabolism of (glyco)sphingolipids are a critical determinant in the pathogenesis of HD and other neurological disorders and may represent a potential therapeutic target.
Other projects include the investigation of the metabolism of other glyco-conjugates in brain disorders and development of gene therapy as therapeutic approach for neurodegenerative diseases.
