Huntington, from the ancient gene to therapeutic perspectives
Lecturer: Elena Cattaneo - Laboratory of Stem Cell Biology and Pharmacology of Neurodegenerative Diseases Department of Biosciences of University of Milan and Senator for life in the Italian Parliament
Date: Feb. 7, 2023 11:30 a.m. - 1 p.m.
Location: Querzoli

Huntington's disease (HD) is a neurodegenerative disorder caused by a CAG repeat expansion in the gene encoding for huntingtin protein. A lot has been learned about this disease since its first description in 1872 and the identification of its causative gene and mutation in 1993. We now know that the disease is characterized by several molecular and cellular abnormalities whose precise timing and relative roles in pathogenesis have yet to be understood. HD is triggered by the mutant protein, and both gain-of-function (of the mutant protein) and loss-of-function (of the normal protein) mechanisms are involved. Here we review the data that describe the emergence of the ancient huntingtin gene and of the polyglutamine trait during the last 800 million years of evolution. We then focus on novel therapeutical targets and pathways and on the attractive option to counteract HD at its primary source, i.e., by blocking the production of the mutant protein.