Trimerization and Genotype-Phenotype Correlation of COL4A5 Mutants in Alport Syndrome.

ABSTRACT:

Introduction

Alport syndrome is a hereditary glomerulonephritis that results from the disruption of collagen α345(IV) heterotrimerization caused by mutation in COL4A3, COL4A4 or COL4A5 genes. Many clinical studies have elucidated the correlation between genotype and phenotype, but there is still much ambiguity and insufficiency. Here, we focused on the α345(IV) heterotrimerization of α5(IV) missense mutant as a novel factor to further understand the pathophysiology of Alport syndrome.

Methods

We selected 9 α5(IV) missense mutants with typical glycine substitutions that clinically differed in disease progression. To quantify the trimerization of each mutant, split nanoluciferase-fused α3/α5 mutants and α4 were transfected into the cells, and intracellular

SUBMITTER: Kamura M 

PROVIDER: S-EPMC7210609 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature