A Simple Secretion Assay for Assessing New and Existing Myocilin Variants.

ABSTRACT:

Purpose

A lack of sufficient functional information exists for appropriately categorizing a large number of myocilin (MYOC) variants and their involvement in primary open angle glaucoma, hindering their clinical significance classification. Most glaucoma-causing MYOC mutations result in protein non-secretion and intracellular insoluble aggregate formation in cultured cells. Herein, we generated a Gaussia luciferase-based MYOC fusion protein to quickly and sensitively track the secretion of MYOC variants and compared these results to the better-established western blotting assay for MYOC.

Methods

Fourteen clinically-derived MYOC variants with varying degrees of predicted pathogenicity were transfected into HEK-293A cells and analyzed by either a luciferase assay or wes

SUBMITTER: Nakahara E 

PROVIDER: S-EPMC9743483 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature