How are genetic and environmental factors involved in neurodegeneration?
We are interested in understanding the molecular mechanisms underlying pathology of the central and peripheral nervous systems. In particular, we focused on the study of Charcot-Marie-Tooth and Parkinson’s diseases using an innovative combination of Physics, Bioinformatics and Biology.
The Bortolozzi lab is currently working on three main projects: (i) the study of connexin 32 (Cx32), whose mutations cause the X-linked form of Charcot-Marie-Tooth peripheral neuropathy (CMT1X), a degenerative motor and sensory disorder; (ii) the study of pathological variants of the parkin protein which cause the autosomal recessive juvenile parkinsonism (ARJP); (iii) the study of the effects of perfluoroalkyl substances (PFAS) in the physiology and pathology of brain neurons. Both CMT1X and ARJP diseases are associated to dysfunctional ion channels and lack an effective treatment. Bortolozzi lab’s research points towards clarifying the molecular mechanisms underlying pathology by a combination of biophysics and cellular models, including the most recent technology derived from induced pluripotent stem cells, such as human brain organoids. Therapeutic strategies are investigated up to the single channel level. We recently suggested a possible key role of Cx32 hemichannels in the molecular pathogenesis of CMT1X and proposed a therapeutic strategy based on mimetic peptides (Patent nr. 102017000084299 deposited on 24th July 2017).
- Master Degree: Physics, University of Padova, Italy (2004).
- PhD: Neurobiology, Biosciences School, University of Padova, Italy (2008).
- Postdoc: Venetian Institute of Molecular Medicine (VIMM), Padova, Italy (2008-2010).
- Assistant Professor: Dept. Physics and Astronomy, University of Padova, Italy (2010-2017).
- Visiting Scientist: Dept. of Physiology, Anatomy and Genetics, University of Oxford, UK (2012-2013).
- Group leader: Venetian Institute of Molecular Medicine (VIMM), Padova, Italy (since 2013).
- Associate professor: Dept. Physics and Astronomy, University of Padova, Italy (since 2017).
- AFM Telethon
- TIN Foundation