DNA hypermethylation of GDF5 in developmental dysplasia of the hip (DDH)
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 e...
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doaj-17befb555adb437d8233efc103693f692020-11-25T00:55:18ZengWileyMolecular Genetics & Genomic Medicine2324-92692019-09-0179n/an/a10.1002/mgg3.887DNA hypermethylation of GDF5 in developmental dysplasia of the hip (DDH)Taghi Baghdadi0Mohammad Nejadhosseinian1Reza Shirkoohi2Reza Mostafavi Tabatabaee3Seyed S. Tamehri4Mojtaba Saffari5S. M. Javad Mortazavi6Department of Orthopedic Surgery Tehran University of Medical Sciences Tehran IR IranDepartment of Orthopedic Surgery Tehran University of Medical Sciences Tehran IR IranDepartment of Medical Genetics Tehran University of Medical Sciences Tehran IR IranJoint Reconstruction Research Center Imam Khomeini Hospital, Tehran University of Medical Sciences Tehran IR IranJoint Reconstruction Research Center Imam Khomeini Hospital, Tehran University of Medical Sciences Tehran IR IranDepartment of medical genetics, School of medicine Tehran University of Medical Sciences Tehran IR IranDepartment of Orthopedic Surgery Tehran University of Medical Sciences Tehran IR IranAbstract 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.https://doi.org/10.1002/mgg3.887Developmental Dysplasia of the Hip (DDH)DNA methylationGDF5 |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Taghi Baghdadi Mohammad Nejadhosseinian Reza Shirkoohi Reza Mostafavi Tabatabaee Seyed S. Tamehri Mojtaba Saffari S. M. Javad Mortazavi |
spellingShingle |
Taghi Baghdadi Mohammad Nejadhosseinian Reza Shirkoohi Reza Mostafavi Tabatabaee Seyed S. Tamehri Mojtaba Saffari S. M. Javad Mortazavi DNA hypermethylation of GDF5 in developmental dysplasia of the hip (DDH) Molecular Genetics & Genomic Medicine Developmental Dysplasia of the Hip (DDH) DNA methylation GDF5 |
author_facet |
Taghi Baghdadi Mohammad Nejadhosseinian Reza Shirkoohi Reza Mostafavi Tabatabaee Seyed S. Tamehri Mojtaba Saffari S. M. Javad Mortazavi |
author_sort |
Taghi Baghdadi |
title |
DNA hypermethylation of GDF5 in developmental dysplasia of the hip (DDH) |
title_short |
DNA hypermethylation of GDF5 in developmental dysplasia of the hip (DDH) |
title_full |
DNA hypermethylation of GDF5 in developmental dysplasia of the hip (DDH) |
title_fullStr |
DNA hypermethylation of GDF5 in developmental dysplasia of the hip (DDH) |
title_full_unstemmed |
DNA hypermethylation of GDF5 in developmental dysplasia of the hip (DDH) |
title_sort |
dna hypermethylation of gdf5 in developmental dysplasia of the hip (ddh) |
publisher |
Wiley |
series |
Molecular Genetics & Genomic Medicine |
issn |
2324-9269 |
publishDate |
2019-09-01 |
description |
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. |
topic |
Developmental Dysplasia of the Hip (DDH) DNA methylation GDF5 |
url |
https://doi.org/10.1002/mgg3.887 |
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