11 décembre 2014: Prof. Elena Cattaneo
Jeudi 11 décembre 2014, 12h30
CMU - A250
Elena CATTANEO, PhD
Institute of Cell Biology
Department of Biology, Faculty of Science, University of Milano
«Huntington's disease and the story of its 800 million-year-old gene»
Huntingtin (htt) is the ~800 million-year old protein product of the Huntington’s disease (HD) gene. The gene contains a polymorphic tri-nucleotide CAG repeat that is translated into polyglutamine amino acid (polyQ) residues in the protein. When this polyQ stretch at the 18 aminoacid (aa) position of the protein expands to over 36 residues, HD occurs, a fatal, genetically dominant, neurodegenerative disease. The CAG repeats are well conserved in deuterostomes, which suggests that they are an ancestral feature retained during the evolution of the protein. Htt carries a number of specific activities in the adult brain; for instance, it promotes transcription of neuronal genes among which is the BDNF, a neurotrophin critical for the survival and activity of cortical and striatal neurons that degenerate in HD. This presentation will highlight the power of combining evolutionary and developmental approaches to the study of the biology of disease-genes and will review the more recent discoveries of the function of htt in the developing and mature brain.
Elena Cattaneo is director of the “Laboratory of stem cell biology and pharmacology of neurodegenerative diseases” at the Department of Biosciences (www.cattaneolab.it) as well as co-founder and first appointed Director of UniStem (www.unistem.it), the Centre for Stem Cell Research of the University of Milano.
The main research theme of her lab is the molecular pathophysiology of Huntington’s Disease (HD). In particular, the laboratory aims at exploiting the recent advances in embryonic and induced stem cell biology to obtain the medium-sized spiny striatal neurons that degenerate in HD as they would represent an important tool for disease modelling and to study early pathogenic aspects. On the other hand, the lab is pursuing a detailed characterization of the function of the HD gene in health and disease and has identified a number of molecular pathways targeted by the gene. The lab’s ultimate goal is to identify cells, molecules and pathways that are suitable for therapeutic intervention and new reagents for drug screening in Huntington's Disease.
The lab is composed of 20 scientists and includes an internal management.
Over the years, funders of the Cattaneo's lab included the Huntington’s Disease Society of America (USA), the Hereditary Disease Foundation (USA), the CHDI Foundation (USA), the European Union (through EuroStemCell, ESTOOLS, NeuroNE, STEM-HD, Stemstroke, Neuromics, Neurostemcell, Neurostemcellrepair projects), the Ministry of Research and University (Italy), Fondazione Cariplo (Italy), Telethon (Italy). E. Cattaneo has recently acted as coordinator of the EU project Neurostemcell (2008-2013). She is currently coordinating a new EU consortium – Neurostemcellrepair, 2013-2017 - as well as an italian network on stem cells for Huntington’s Disease funded by the Ministry of Research and University (2013-2016). Occasionally, the University receives donations from HD families directed to HD research performed in the Cattaneo’s laboratory.
Elena Cattaneo is Professor of Pharmacology and teaches the Courses of “Stem cells in pharmacology and regenerative medicine” and “Biotechnology applied to Pharmacology” at the Faculty of Biological Sciences of the University of Milano. She has been tutoring 18 Doctorate students (Doctorate programme) and 86 graduate students for the preparation of their experimental thesis (Laurea Degree).