PhD Scientific Days 2025

Poster Session III. - R: Neurosciences

Functional Characterization of the DNM2 Gene in Intracellular Processes Using siRNA Silencing

Előadó neve

Süveges Anna, MSc

Neptun code

bz36on

Előadó munkahelye

1. Institute of Genomic Medicine and Rare Disorders, Semmelweis University/ 3. Győr-Moson-Sopron County Petz Aladár University Teaching Hospital, Hungary

Előadó telefonszáma

+36202893609

Előadó e-mail címe

anna.sveges@gmail.com

Az előadás címe

Functional Characterization of the DNM2 Gene in Intracellular Processes Using siRNA Silencing

Szerző(k) neve és munkahelye

Anna Süveges MSc¹

1: 1. Institute of Genomic Medicine and Rare Disorders, Semmelweis University/ 3. Győr-Moson-Sopron County Petz Aladár University Teaching Hospital, Hungary

Bemutatás módja

Poszter

Szekció

Poster Session III. - R: Neurosciences

Language of the presentation

Hungarian

Preferred session

Neurosciences

Összefoglaló szövege

Introduction: Dynamin 2 (DNM2) is a cytosolic large GTPase that plays a diverse role in various essential regulatory mechanisms of cellular function, including clathrin-mediated endocytosis and intracellular membrane trafficking. Dysregulations of DNM2 have been linked to various neuromuscular and metabolic disorders, but its role in mitochondrial dynamics remains unclear.
Aims: We aimed to investigate the effects of DNM2 depletion on gene expression in HeLa cells, focusing on gene expression changes that may influence mitochondrial dynamics.
Methods: In triplicate experiments, gene silencing was conducted using three distinct siRNA sequences. Scrambled siRNA and non-transfected cells served as negative controls. Silencing efficiency was validated by qRT-PCR and Western blotting. Samples with confirmed knockdown were subjected to RNA sequencing (Illumina NextSeq), and transcriptomic changes were analyzed using differential gene expression profiling.
Results: DNM2 silencing led to significant expression changes in 35 genes. Downregulation of FBLIM1, KRT13, KRT19, TMEM139, and TMEM45A genes involved in cytoskeletal organization and intracellular trafficking may secondarily influence mitochondrial dynamics. The reduced expression of TNNC1, a key regulator of muscle contraction, may underlie the emergence of centronuclear features. Notably, CYP4F3, involved in cholesterol and steroid biosynthesis, was also significantly downregulated, suggesting a potential link between DNM2 dysfunction and endocrine dysregulation via impaired steroidogenic pathways.
Conclusion: Our findings indicate that DNM2 knockdown leads to transcriptional alterations affecting pathways beyond membrane trafficking. Secondary effects on mitochondrial dynamics may result from disrupted cytoskeletal and steroidogenic processes, offering novel insights into the pathophysiology of DNM2-related disorders. Taken together, this represents a promising step towards elucidating the intracellular role of DNM2 protein, towards targeted treatment of DNM2-related disorders, and may support future therapeutic strategies.
Funding: The study was supported by the National Research, Development and Innovation Office (NKFIH_FK_132812) and the TKP2021-EGA.25 and TKP2021-NVA-15 grants, as well as the János Bolyai Research Scholarship and the Hungarian Academy of Sciences 80/2/2025 KP scholarship.

University

Semmelweis University

Supervisor

Dr. Gál Anikó

Publication of my abstract

I give consent to the publication of my abstract on the website of the congress.

phd.section.field

in doctoral studies before complex exam (PhD)

Kind

Szabad

Status

elfogadva

Accepted presentation method

poszter

Előadás fájl jóváhagyás

nem rendelkezett róla

Előadó

9102

Start

14:30

End

14:36