Characterization of the Ocular Phenotype in a Col4a3 Knockout Mouse Model of Alport Syndrome.

ABSTRACT:

Purpose

Alport syndrome (AS) is a genetic condition caused by a dysfunctional collagen (IV) α3α4α5 heterotrimer, leading to basement membrane instability and, ultimately, abnormalities in the kidney, inner ear, and eyes. This study aimed to characterize ocular pathology of AS by focusing on inflammatory and fibrotic markers.

Methods

Col4a3tm1Dec knockout (KO) mice eyes were evaluated for the localization of collagen (IV) α3 and collagen (IV) α4, then stained for transforming growth factor-β1 (TGF-β1), TGF-β2, connective tissue growth factor (CTGF), and β-catenin. mRNA levels of the profibrotic genes S100a4, Acta2, Col1a1, Snai1, Snai2, and Twist1 were assessed using real-time reverse transcription quantitative PCR (RT-qPCR).

Results

Collagen (IV) α3 and collagen (IV)

SUBMITTER: Belamkar A 

PROVIDER: S-EPMC11654772 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature