Many patients with ADPKD inherit and acquire subtle mutations in the PKD2 gene, which encodes for an ion channel– a pore that controls the flow of ions in and out of the cell. Yet we still do not know how these mutations impact PKD2’s function because it is found in a tiny, hair-like cellular organelle called the "primary cilia", which presents a significant challenge to study. However, our laboratory has developed state-of-the-art methodologies to assess PKD2 mutations directly from the primary cilia and their impacts on its molecular structure. Here we focus on mutations found within “Finger 1” of PKD2 and ask– how do they alter this channel’s function and its atomic assembly in the cilia? Understanding the consequences of these mutations is the first step in establishing PKD2 as potential drug target for ADPKD intervention and forms the molecular basis for the initiation of cyst formation in this disease.
|Effective start/end date||7/1/18 → 6/30/21|
- PKD Foundation (219G18a)