BMI SEMINAR // Laura Cancedda - Targeting aberrant Cl- homeostasis in Down syndrome to design innovative therapeutic approaches


Event details

Date and time 02.10.2019 12:1513:15  
Place and room
Speaker Laura Cancedda, The Italian Institute of Technology, Genoa, Italy
Category Conferences - Seminars

Down syndrome (DS) is the most frequent genetic cause of intellectual disability. A large body of literature demonstrated that altered GABAergic transmission through Cl- permeable GABAAreceptors considerably contributes to learning and memory deficits in DS mouse models. In particular, we have demonstrated that intracellular Cl concentration is impaired in DS mice due to upregulation of the Cl importer NKCC1. Notably, NKCC1 inhibition by the FDA-approved diuretic bumetanide restores Cl homeostasis, synaptic plasticity and hippocampus-dependent memory in adult DS mice. Based on these findings, a pilot clinical trial will soon start on adult individuals with DS. Yet, there are open issues related to Clhomeostasis and NKCC1 inhibition that, if addressed will provide new knowledge into DS molecular mechanisms and will offer a larger scientific background for designing future clinical trials. In this talk, I will summarize all findings from our laboratory on DS, and show preliminary results we recently collected on some of these open issues.