Treat-ION TP4

Treat-ION - Neue Therapien für neurologische Ionenkanal- und Transporterstörungen

01/05/2019 to 30/04/2022

In a well characterized German ataxia cohort, we have detected 17 such variants in the CACNA1A gene, encoding the CaV2.1 voltage gated calcium channel. Given the large number of CACNA1A disease associated mutations described to date, we aim to utilize a rapid and powerful genetic model – Drosophila melanogaster – to investigate selected variants. Its highly conserved CACNA1A ortholog cacophony will be used to (i) test the pathogenicity of candidate variants; (ii) assess whether the mutations in- or decrease channel activity and (iii) perform preliminary pharmacological studies.