Modeling of ACTN4-Based Podocytopathy Using Drosophila Nephrocytes.

ABSTRACT:

Introduction

Genetic disorders are among the most prevalent causes leading to progressive glomerular disease and, ultimately, end-stage renal disease (ESRD) in children and adolescents. Identification of underlying genetic causes is indispensable for targeted treatment strategies and counseling of affected patients and their families.

Methods

Here, we report on a boy who presented at 4 years of age with proteinuria and biopsy-proven focal segmental glomerulosclerosis (FSGS) that was temporarily responsive to treatment with ciclosporin A. Molecular genetic testing identified a novel mutation in alpha-actinin-4 (p.M240T). We describe a feasible and efficient experimental approach to test its pathogenicity by combining in silico, in vitro, and in vivo analy

SUBMITTER: Odenthal J 

PROVIDER: S-EPMC9939316 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature