PhD Scientific Days 2025

Poster Session I. - A: Molecular Medicine

Mitochondrial Dysfunction from mtDNA Multiple Deletions Induces Compensatory and Stress-Related Transcriptomic Responses Based on Our Insulin-Resistant Cohort

Előadó neve

Mr. Bánfi Barnabás Lőrinc

Neptun code

XW3O3V

Előadó munkahelye

Institute of Genomic Medicine and Rare Disorders

Előadó telefonszáma

+36303675978

Előadó e-mail címe

banfibarnabas@gmail.com

Az előadás címe

Mitochondrial Dysfunction from mtDNA Multiple Deletions Induces Compensatory and Stress-Related Transcriptomic Responses Based on Our Insulin-Resistant Cohort

Szerző(k) neve és munkahelye

Barnabás Bánfi¹, Zsolt Vigassy¹, Dominik Dobos¹, Vera Varhegyi¹, Maria Judit Molnar¹, Szabolcs Varbiro^2,3,4, Aniko Gal¹

1: Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary
2: Department of Obstetrics and Gynecology, Semmelweis University, Hungary
3: Department of Obstetrics and Gynecology, University of Szeged, Hungary
4: Workgroup for Science Management, Doctoral School, Semmelweis University, Budapest, Hungary

Bemutatás módja

Poszter

Szekció

Poster Session I. - A: Molecular Medicine

Language of the presentation

English

Preferred session

Molecular Medicine

Összefoglaló szövege

Introduction: Mitochondrial DNA (mtDNA) deletions may occur as single or multiplex events. While single deletions are typically associated with primary mitochondrial disorders, multiple deletions reflect more complex mtDNA instability and have also been detected in healthy individuals. Recent evidence suggests that such deletions may serve as DNA-based biomarkers of mitochondrial dysfunction, especially in cancer.
Aims: This study aimed to identify genes and pathways involved in mitochondrial dysfunction associated with mtDNA deletions.
Methods: We analyzed peripheral blood samples from five individuals with mtDNA deletions and five age-matched controls. Deletions were detected using DNA-based biomarkers. Total RNA was extracted and sequenced using Illumina technology. Differential gene expression and pathway analyses were performed using standard bioinformatics tools.
Results: Differential expression analysis revealed upregulation of several mtDNA-encoded and OXPHOS-related genes, indicating increased mitochondrial activity. Genes involved in apoptosis, autophagy, mitophagy, and ROS signaling also showed altered expression, consistent with mitochondrial stress. In insulin-resistant subjects, changes were observed in inflammatory pathways (e.g., NF-κB, GPCR), as well as in immune and mitochondrial metabolic genes. Age-related transcriptional changes primarily affected OXPHOS-related genes. Pathway analysis showed enhanced activity in oxidative phosphorylation and respiratory functions, alongside downregulation of MHC class II assembly, T cell activation, and antigen presentation.
Conclusion: Contrary to initial expectations, mitochondrial dysfunction due to deletions did not lead to downregulation of mitochondrial genes. Instead, an upregulation, particularly of OXPHOS genes, was observed, suggesting a compensatory mechanism. The results also point to coordinated regulation of genes involved in apoptosis, autophagy, and mitophagy, highlighting their potential role in mitochondrial stress adaptation.
Funding: The study was supported by the National Research, Development, and Innovation Office (NKFIH_FK_132812) and TKP2021-EGA.25, TKP2021-NVA-15 grants. Aniko Gal was supported by the János Bolyai Research Scholarship and the MTA 80/2/2025 KP scholarship.

University

Semmelweis University

Supervisor

Dr Anikó Gál

Publication of my abstract

I do not give consent to the publication of my abstract on the website of the congress.

phd.section.field

before finishing undergraduate studies (TDK, MD-PhD)

Kind

Szabad

Status

elfogadva

Accepted presentation method

poszter

Előadás fájl jóváhagyás

nem rendelkezett róla

Előadó

9100

Start

17:36

End

17:42