Open AccessDNA hypermethylation of GDF5 in developmental dysplasia of the hip (DDH)
Author(s) -
Baghdadi Taghi,
Nejadhosseinian Mohammad,
Shirkoohi Reza,
Mostafavi Tabatabaee Reza,
Tamehri Seyed S.,
Saffari Mojtaba,
Mortazavi S. M. Javad
Publication year - 2019
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.887
Subject(s) - dna methylation , epigenetics , cartilage , methylation , femoral head , medicine , femoral neck , pathogenesis , gene , gene expression , biology , genetics , anatomy , osteoporosis
Abstract Introduction & Objective Developmental Dysplasia of the Hip (DDH) is one of the most common congenital skeletal anomalies. Body of evidence suggests that genetic variations in GDF5 are associated with susceptibility to DDH. DDH is a multifactorial disease and its etiology has not been entirely determined. Epigenetic changes such as DNA methylation could be linked to DDH. In this scheme, we hypothesized that changes in GDF5 DNA methylation could predispose a susceptible individual to DDH. Methods This study consisted of 45 DDH patients and 45 controls with healthy femoral neck cartilage, who underwent hemi‐, or total arthroplasty for the femoral neck fracture. A cartilage sample of 1 cm in diameter and 1 mm in the thickness was obtained for DNA extraction. DNA was extracted and DNA methylation of GDF5 was evaluated by metabisulfite method. Results Methylation analysis showed that the promoter of GDF5 in cartilage samples from DDH patients was hypermethylated in comparison to healthy controls ( p = .001). Conclusion Our study showed that the methylation status of the GDF5 in patients with DDH is dysregulated. This dysregulation indicates that adjustment in the methylation might modify the expression of this gene. Since this gene plays an essential role in cartilage and bone development, thus reducing its expression can contribute to the pathogenesis of DDH. Further studies are needed to elucidate the role of GDF5 in this disease.