Semmelweis University

The Role of Genetics in the Musculoskeletal System: Muscle Performance and Tumorigenesis Influenced by Altered Gene Expression and Gene Polymorphisms

Bozsódi Árpád

Surgical Medicine Division

Dr. Szijártó Attila

Budai Egészségközpont Akadémia

2026-09-14 15:00:00

Physiology and Pathology of the Musculoskeletal System

Dr. Szőke György

Dr. Lazáry Áron

Dr. Kósa János

Dr. Szabó Viktor

Dr. Lakatos Péter András

Dr. Szalay Krisztián

Dr. Tunyogi-Csapó Miklós

A better understanding of the functioning and healing of the musculoskeletal system allows for the development of specific treatment strategies. Many of the interesting techniques discussed in this thesis are in stages of development. Although these emerging technologies may develop into significant clinical treatment options, their full impact must be scientifically critically evaluated. Vitamin D receptor gene • A positive correlation between muscle strength and some biologically significant candidate VDR gene variants was revealed. • "AA" genotype of BsmI, and "CC" genotype of TaqI were associated with stronger hand grip in the dominant hand. The "TT" genotype of A1012G was associated with stronger hand grip in both hands. • The VDR haplotype constructed by Bsml, TaqI, and rs10783215 showed a strong relationship with hand grip strength for both hands. Chordoma • Until now, RNA isolation from freshly frozen chordoma has encountered obstacles due to the mucinous material of the tumor. The advantage of the present research is that, after overcoming the difficulties of isolating RNA from a freshly frozen tumor sample, the authors succeeded in setting up a new RNA isolation protocol, which for the first time enabled the sequencing of total RNA in chordoma. • Succesful next-generation sequencing for the combined analysis of global miRNA and mRNA gene expression changes was done in sacral chordoma • We successfully identified a large number of differentially expressed miRNAs between chondroma and nucleus pulopsus, where 74 miRNAs were upregulated and 52 downregulated in chordoma. • We successfully validated that activation of the Hippo pathway is having role in the self-renewal mecahnism of chordoma.