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DNA hypermethylation of GDF5 in developmental dysplasia of the hip (DDH)

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...

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Autores principales: Baghdadi, Taghi, Nejadhosseinian, Mohammad, Shirkoohi, Reza, Mostafavi Tabatabaee, Reza, Tamehri, Seyed S., Saffari, Mojtaba, Mortazavi, S. M. Javad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732267/
https://www.ncbi.nlm.nih.gov/pubmed/31338995
http://dx.doi.org/10.1002/mgg3.887
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author Baghdadi, Taghi
Nejadhosseinian, Mohammad
Shirkoohi, Reza
Mostafavi Tabatabaee, Reza
Tamehri, Seyed S.
Saffari, Mojtaba
Mortazavi, S. M. Javad
author_facet Baghdadi, Taghi
Nejadhosseinian, Mohammad
Shirkoohi, Reza
Mostafavi Tabatabaee, Reza
Tamehri, Seyed S.
Saffari, Mojtaba
Mortazavi, S. M. Javad
author_sort Baghdadi, Taghi
collection PubMed
description 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.
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spelling pubmed-67322672019-09-12 DNA hypermethylation of GDF5 in developmental dysplasia of the hip (DDH) Baghdadi, Taghi Nejadhosseinian, Mohammad Shirkoohi, Reza Mostafavi Tabatabaee, Reza Tamehri, Seyed S. Saffari, Mojtaba Mortazavi, S. M. Javad Mol Genet Genomic Med Original Articles 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. John Wiley and Sons Inc. 2019-07-23 /pmc/articles/PMC6732267/ /pubmed/31338995 http://dx.doi.org/10.1002/mgg3.887 Text en © 2019 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Articles
Baghdadi, Taghi
Nejadhosseinian, Mohammad
Shirkoohi, Reza
Mostafavi Tabatabaee, Reza
Tamehri, Seyed S.
Saffari, Mojtaba
Mortazavi, S. M. Javad
DNA hypermethylation of GDF5 in developmental dysplasia of the hip (DDH)
title 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_short DNA hypermethylation of GDF5 in developmental dysplasia of the hip (DDH)
title_sort dna hypermethylation of gdf5 in developmental dysplasia of the hip (ddh)
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732267/
https://www.ncbi.nlm.nih.gov/pubmed/31338995
http://dx.doi.org/10.1002/mgg3.887
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