Pathogenicity and oligomerization of podocin
The role of the altered podocin dimerization in the development of nephrosis provides an exceptional and beautiful example for the importance of the protein structure in the pathophysiology of a human disease. As a consequence of this phenomenon, the R229Q podocin is non-pathogenic in the homozygous state, but only when trans-associated to specific mutations, i.e. when it gets retained in intracellular compartments secondary to an altered oligomerization. The present study aims to determine the dimerization capacity and the membrane targeting of different podocin oligomers in cell culture, in in vitro and in silico experiments, in order to help understanding the dominant negative effect and thereby exploring possible therapeutic options.
Ágnes Mikó - Kálmán Tory - Dóra K. Menyhárd - Gusztáv Schay