Association of sequence polymorphism in the mitochondrial D-loop with chronic kidney disease

Related Experiment Video

Updated: May 2, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

36.1K

Yaling Bai1, Zhanjun Guo, Jinsheng Xu

  • 1Department of Nephrology, The Fourth Hospital of Hebei Medical University , Shijiazhuang , P.R. China and.

Renal Failure
|March 1, 2014
PubMed
Abstract

Insights

Genetic variations in the mitochondrial DNA D-loop may predict chronic kidney disease (CKD) risk. Specific single nucleotide polymorphisms (SNPs) in the D-loop are associated with increased CKD susceptibility.

Area of Science:

  • Genetics
  • Mitochondrial DNA Research
  • Nephrology

Background:

  • The mitochondrial DNA (mtDNA) displacement loop (D-loop) exhibits a high mutation and single nucleotide polymorphism (SNP) accumulation rate.
  • Understanding genetic factors influencing disease risk is crucial for early detection and intervention.

Purpose of the Study:

  • To investigate the association between SNPs in the mitochondrial D-loop and the risk of developing chronic kidney disease (CKD).
  • To identify potential genetic markers for CKD risk prediction.

Main Methods:

  • A case-control study design was employed.
  • Sequencing of SNPs within the mitochondrial D-loop of participants.
  • Statistical analysis to determine the association between specific SNPs and CKD.

Main Results:

  • 144 SNPs, referenced to the Revised Cambridge Reference Sequence (rCRS), were identified.
  • Minor alleles at nucleotide positions 73G, 146C, 150T, 194T, 195C, and 310C were significantly associated with an elevated risk of CKD.
  • These findings suggest a correlation between specific mtDNA D-loop polymorphisms and CKD.

Conclusions:

  • Genetic polymorphisms in the mitochondrial D-loop serve as potential predictors for chronic kidney disease.
  • Analysis of these SNPs can aid in identifying individuals at high risk for CKD.
  • This research contributes to the understanding of the genetic basis of CKD.
Keywords:
Chronic kidney diseaseD-loopSNPmtDNA

More Related Videos

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing07:24

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing

Published on: February 10, 2023

2.0K
Comparative Proteomic Analysis of Whole Kidney, Medulla, and Cortical Tubules in Diabetic Pathogenesis of Kidney Injury in Mice10:31

Comparative Proteomic Analysis of Whole Kidney, Medulla, and Cortical Tubules in Diabetic Pathogenesis of Kidney Injury in Mice

Published on: May 2, 2025

798

Related Concept Videos

Chronic Kidney Disease I: Introduction01:25

Chronic Kidney Disease I: Introduction

Chronic Kidney Disease (CKD) arises when the kidneys progressively lose their ability to function, ultimately leading to end-stage renal disease. At this advanced stage, the kidneys can no longer filter waste or maintain essential body functions, requiring renal replacement therapy (RRT) through dialysis or a kidney transplant for survival.Early-stage chronic kidney disease and detection challengesIn CKD's early stages, symptoms often remain absent because healthy nephrons compensate for...
1.4K
Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
1.1K
Nephrons01:10

Nephrons

The kidneys are intricate organs with millions of working units known as nephrons. Each nephron features two major structures: the renal corpuscle, which facilitates blood plasma filtration, and the renal tubule, which handles the glomerular filtrate. Blood supply is directly linked to the nephrons. The renal corpuscle consists of the glomerulus, a capillary network, and the Bowman's capsule, a double-walled epithelial structure that encases the glomerulus. The filtering of blood plasma...
8.2K
Diabetic Nephropathy01:28

Diabetic Nephropathy

Definition Diabetic nephropathy is a chronic kidney complication that results from prolonged hyperglycemia.Prevalence It is the most common cause of chronic kidney disease (CKD) and end-stage renal disease (ESRD) worldwide, affecting up to half of individuals with diabetes.Pathophysiology • Sustained hyperglycemia triggers multiple hemodynamic and metabolic changes in the kidney. • Early in the disease, increased renal blood flow and glomerular hyperfiltration...
32
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
7.8K
Chronic Kidney Disease III: Interprofessional Care01:28

Chronic Kidney Disease III: Interprofessional Care

Chronic kidney disease (CKD) requires collaborative and comprehensive management. CKD progresses through stages and can lead to end-stage kidney disease (ESKD) if untreated. Interprofessional collaboration and patient education are crucial, enabling patients to manage their health and improve their quality of life.Diagnostic approach for chronic kidney diseaseThe diagnosis of CKD primarily focuses on the glomerular filtration rate (GFR), which assesses kidney function by measuring how well...
679