Genome-wide DNA methylation analysis identifies kidney epigenetic dysregulation in a cystinosis mouse model.

ABSTRACT:

Introduction

Nephropathic cystinosis is a rare genetic disorder characterized by cystine accumulation in lysosomes that causes early renal dysfunction and progressive chronic kidney disease. Although several metabolic pathways, including oxidative stress and inflammation, have been implicated in the progression of renal parenchyma damage, the precise mechanisms driving its progression are not fully understood. Recent studies suggest that epigenetic modifications, particularly DNA methylation (DNAm), play a critical role in the development of chronic kidney disease. We hypothesized that epigenetic dysregulation may contribute to the progression of kidney disease in cystinosis.

Methods

To investigate this, we conducted genome-wide DNAm analyses on kidneys harvested from 6-mont

SUBMITTER: Rossi MN 

PROVIDER: S-EPMC12408635 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature