Related Experiment Video

Updated: Sep 23, 2025

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer
07:50

Genome-Wide Analysis of DNA Methylation in Gastrointestinal Cancer

Published on: September 18, 2020

5.7K

The correlation between promoter hypermethylation of VDR, CLDN, and CasR genes and recurrent stone formation

Fatemeh Khatami1, Alireza Gorji1, Mahdi Khoshchehreh2

  • 1Urology Research Center, Tehran University of Medical Sciences, Tehran, Iran.

BMC Medical Genomics
|May 13, 2022
PubMed
Abstract

Insights

Epigenetic changes, specifically promoter hypermethylation in the vitamin D receptor (VDR) and claudin 14 (CLDN14) genes, are significantly associated with recurrent kidney stone formation. These findings highlight methylation

Area of Science:

  • Epigenetics and Molecular Biology
  • Nephrology and Urology
  • Genetics and Genomics

Background:

  • Recurrent kidney stone formation presents a significant global health and economic challenge.
  • Environmental and genetic factors are implicated in the increased risk of developing kidney stones.
  • Epigenetic mechanisms, such as DNA methylation, are increasingly recognized as potential contributors to disease pathogenesis.

Purpose of the Study:

  • To investigate the association between promoter hypermethylation of the vitamin D receptor (VDR), calcium-sensing receptor (CaSR), and claudin 14 (CLDN14) genes in individuals with recurrent kidney stones.
  • To assess the role of DNA methylation as an epigenetic factor in the etiology of recurrent kidney stone disease.

Main Methods:

  • A case-control study involving 30 recurrent kidney stone formers (cases) and 30 age- and gender-matched controls.
  • DNA was extracted from blood samples, and promoter methylation of VDR, CaSR, and CLDN14 genes was analyzed.
  • Methylation quantification was performed using methylation-specific high-resolution melting (MS-HRM) analysis on bisulfite-converted DNA.

Main Results:

  • Significant differences in methylation status across six target regions were observed between stone formers and controls (p < 0.001).
  • Promoter hypermethylation showed a stronger association with recurrent kidney stones in the VDR and CLDN14 genes compared to the CaSR gene (p < 0.005 vs. p < 0.256).
  • Methylation patterns were categorized into unmethylated, methylated, and hypermethylated clusters, revealing distinct profiles between groups.

Conclusions:

  • DNA methylation is an important epigenetic mechanism that warrants consideration in the context of recurrent kidney stone formation.
  • Promoter hypermethylation of the VDR and CLDN14 genes may play a crucial role in the pathogenesis of recurrent kidney stones.
  • These findings suggest potential epigenetic biomarkers for identifying individuals at risk of recurrent kidney stone disease.
Keywords:
EpigeneticPromoter hypermethylationRecurrent stone formation

More Related Videos

Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis07:45

Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis

Published on: February 9, 2021

3.7K
A Semi-Automated and Reproducible Biological-Based Method to Quantify Calcium Deposition In Vitro11:30

A Semi-Automated and Reproducible Biological-Based Method to Quantify Calcium Deposition In Vitro

Published on: June 2, 2022

2.1K

Related Concept Videos

Urinary Tract Calculi I: Introduction01:28

Urinary Tract Calculi I: Introduction

Renal calculi, or kidney stones, are solid deposits of minerals and salts formed inside the kidneys. In medical terminology, "calculus" refers to the stone itself, while "lithiasis" describes the process of stone formation. Depending on their location within the urinary system, these stones may be classified as either urolithiasis, when situated within the urinary tract, or nephrolithiasis, when located within the kidneys. Each term signifies the specific impact of the stone.Predisposition...
60
Urinary Tract Calculi IV: Nutrition Therapy and Prevention01:27

Urinary Tract Calculi IV: Nutrition Therapy and Prevention

Management of renal calculi focuses on effective strategies like tailored nutrition and hydration therapy. Adjusting diet and fluid intake reduces stone formation and recurrence, making these interventions simple yet powerful in kidney stone prevention and management.Understanding Kidney StonesKidney stones form when calcium, oxalate, uric acid, and cystine concentrate and crystallize in urine. Factors contributing to their formation include genetic predisposition, certain medical conditions,...
43
Urinary Tract Calculi III: Medical Management01:30

Urinary Tract Calculi III: Medical Management

The diagnosis of renal calculi involves several imaging techniques, including non-contrast CT scans and ultrasound. These methods help visualize kidney stones, assess their size and location, and detect possible obstructions. Additionally, Measuring urine pH is useful for diagnosing specific stone types, such as struvite (alkaline pH) and uric acid stones (acidic pH). Cystine stones are primarily linked to cystinuria, a genetic condition. A urinalysis helps detect blood in the urine (hematuria)...
40
Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations01:26

Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations

Renal calculi, commonly termed kidney stones, are crystalline solid masses that form in the kidneys but can occur at any point within the urinary system, encompassing the kidneys, ureters, bladder, and urethra.The pathophysiology of renal stones involves several key factors: supersaturation of the urine with stone-forming constituents, changes in urine pH, a decrease in urine volume, and the presence of substances that promote or inhibit stone formation.Supersaturation of Urine: This is the...
48
Epigenetic Regulation01:37

Epigenetic Regulation

Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
3.2K