Molecular and functional characterization of urine-derived podocytes from patients with Alport syndrome.

ABSTRACT: Alport syndrome (AS) is a genetic disorder involving mutations in the genes encoding collagen IV α3, α4 or α5 chains, resulting in the impairment of glomerular basement membrane. Podocytes are responsible for production and correct assembly of collagen IV isoforms; however, data on the phenotypic characteristics of human AS podocytes and their functional alterations are currently limited. The evident loss of viable podocytes into the urine of patients with active glomerular disease enables their isolation in a non-invasive way. Here we isolated, immortalized, and subcloned podocytes from the urine of three different AS patients for molecular and functional characterization. AS podocytes expressed a typical podocyte signature and showed a collagen IV profile reflecting each patient's mutati

SUBMITTER: Iampietro C 

PROVIDER: S-EPMC7589231 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature