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Updated: Oct 18, 2025

Genotyping Single Nucleotide Polymorphisms in the Mitochondrial Genome by Pyrosequencing
Published on: February 10, 2023
Mitochondrial DNA Haplogroup Related to the Prevalence of Helicobacter pylori
Yeonmi Lee1, Sun-Mi Lee2, Jiwan Choi1
1Department of Biomedical Science, College of Life Science and Center for Embryo and Stem Cell Research, CHA Advanced Research Institute, CHA University, Seongnam, Gyeonggi 13488, Korea.
Abstract:
Mitochondria are essential organelles that are not only responsible for energy production but are also involved in cell metabolism, calcium homeostasis, and apoptosis. Targeting mitochondria is a key strategy for bacteria to subvert host cells' physiology and promote infection. Helicobacter (H.) pylori targets mitochondria directly. However, mitochondrial genome (mtDNA) polymorphism (haplogroup) is not yet considered an important factor for H. pylori infection. Here, we clarified the association of mitochondrial haplogroups with H. pylori prevalence and the ability to perform damage. Seven mtDNA haplogroups were identified among 28 H. pylori-positive subjects. Haplogroup B was present at a higher frequency and haplotype D at a lower one in the H. pylori population than in that of the H. pylori-negative one. The fibroblasts carrying high-frequency haplogroup displayed a higher apoptotic rate and diminished mitochondrial respiration following H. pylori infection. mtDNA mutations were accumulated more in the H. pylori-positive population than in that of the H. pylori-negative one in old age. Among the mutations, 57% were located in RNA genes or nonsynonymous protein-coding regions in the H. pylori-positive population, while 35% were in the H. pylori-negative one. We concluded that gastric disease caused by Helicobacter virulence could be associated with haplogroups and mtDNA mutations.
Insights
Mitochondrial DNA haplogroups influence Helicobacter pylori infection. Specific haplogroups increase infection risk and host cell damage, highlighting mtDNA
Area of Science:
- Mitochondrial biology
- Infectious diseases
- Genetics
Background:
- Mitochondria are vital organelles involved in energy production, metabolism, calcium homeostasis, and apoptosis.
- Bacteria, including Helicobacter pylori (H. pylori), exploit host cell mitochondria to promote infection.
- The role of mitochondrial DNA (mtDNA) polymorphism, specifically haplogroups, in H. pylori infection remains understudied.
Purpose of the Study:
- To investigate the association between mitochondrial haplogroups and H. pylori prevalence.
- To determine if mitochondrial haplogroups influence the severity of H. pylori-induced cellular damage.
- To analyze the accumulation and location of mtDNA mutations in H. pylori-positive individuals.
Main Methods:
- Identification of seven mtDNA haplogroups in H. pylori-positive subjects.
- Comparative analysis of haplogroup frequencies between H. pylori-positive and negative populations.
- Assessment of fibroblast apoptosis and mitochondrial respiration post-H. pylori infection.
- Analysis of mtDNA mutation accumulation and distribution in different age groups and infection statuses.
Main Results:
- Haplogroup B was more frequent, and haplogroup D less frequent in H. pylori-positive individuals.
- Fibroblasts with high-frequency haplogroups showed increased apoptosis and reduced mitochondrial respiration after H. pylori infection.
- mtDNA mutations accumulated more in H. pylori-positive individuals, particularly in RNA genes and protein-coding regions.
Conclusions:
- Mitochondrial haplogroups are associated with H. pylori prevalence and infection outcomes.
- H. pylori infection can lead to increased mitochondrial damage, influenced by host mtDNA haplogroup.
- mtDNA mutations may play a role in the pathogenesis of gastric diseases caused by H. pylori.
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