Unravelling the Role of PAX2 Mutation in Human Focal Segmental Glomerulosclerosis.

ABSTRACT: No effective treatments are available for familial steroid-resistant Focal Segmental Glomerulosclerosis (FSGS), characterized by proteinuria due to ultrastructural abnormalities in glomerular podocytes. Here, we studied a private PAX2 mutation identified in a patient who developed FSGS in adulthood. By generating adult podocytes using patient-specific induced pluripotent stem cells (iPSC), we developed an in vitro model to dissect the role of this mutation in the onset of FSGS. Despite the PAX2 mutation, patient iPSC properly differentiated into podocytes that exhibited a normal structure and function when compared to control podocytes. However, when exposed to an environmental trigger, patient podocytes were less viable and more susceptible to cell injury. Fixing the mutation improved the

SUBMITTER: Longaretti L 

PROVIDER: S-EPMC8698597 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature