New Study Highlights the Role of Genetic Variants in Bone Healing

“New Study Highlights the Role of Genetic Variants in Bone Healing”

“Mutations in Osteogenic Genes Shed Light on Delayed Bone Union”

A new study submitted to the Acta Orthopaedica journal deeply investigates the role of genetic factors in bone fracture healing. The study titled “Investigating the Potential Role of Osteogenic Gene Variants in Delayed Bone Healing” is conducted by a research team led by Erhan Yelekçi, with Prof. Dr. Teoman Kankılıç, Prof. Dr. Mustafa Çeliktaş, Assoc. Prof. Dr. Dilara Akın, and Research Assistant İlkay Civelek as team members.

The study addresses the impacts of nonunion or delayed union in bone fractures on patients. Researchers explored the relationships between mutations in the BMP4, BMP6, and RUNX2 genes and the healing processes of fractures. DNA samples were analyzed from 30 patients experiencing delayed union or nonunion of long bone fractures, alongside 30 control individuals without such issues.

Results revealed a total of 12 mutations in the targeted genes, including 5 missense mutations, 1 synonymous mutation, 5 intronic mutations, and 1 splice region mutation. The findings highlighted that the four missense mutations identified in the BMP4 and BMP6 genes could potentially have detrimental effects on bone repair. PolyPhen-2 analysis and STRING network analysis determined that these proteins have functional relationships with Activin family proteins, which are dimeric growth and differentiation factors from the TGF-β superfamily.

This research provides valuable insights into genetic factors contributing to the delayed healing of bone fractures, paving the way for future studies on this topic and enhancing the understanding of genetic factors in diagnosis. The results offer new avenues for using genetic information in diagnosis.