DNA methylation in hearing-related genes in non-syndromic sensorineural hearing loss patients
Abstract Background Our understanding of epigenetic modifications in the inner ear is very limited. Although epigenetic regulation of genes related to individual organ- and system-limited pathologies are generally expected to be tissue-specific, DNA methylation patterns in peripheral blood (PB) are...
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| Format: | Article |
| Language: | English |
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SpringerOpen
2023-12-01
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| Series: | The Egyptian Journal of Otolaryngology |
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| Online Access: | https://doi.org/10.1186/s43163-023-00555-4 |
| _version_ | 1797398245379407872 |
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| author | Oğuz Kadir Eğilmez Sermet Can M. Tayyar Kalcıoğlu Berna Demircan Tan Sarenur Yılmaz Özgür Yiğit Muhammed Yusuf Durna Esra Akdeniz Ibrahim Akalin |
| author_facet | Oğuz Kadir Eğilmez Sermet Can M. Tayyar Kalcıoğlu Berna Demircan Tan Sarenur Yılmaz Özgür Yiğit Muhammed Yusuf Durna Esra Akdeniz Ibrahim Akalin |
| author_sort | Oğuz Kadir Eğilmez |
| collection | DOAJ |
| description | Abstract Background Our understanding of epigenetic modifications in the inner ear is very limited. Although epigenetic regulation of genes related to individual organ- and system-limited pathologies are generally expected to be tissue-specific, DNA methylation patterns in peripheral blood (PB) are found to be associated with the presence of several diseases with no typical hematological involvement. Here, we aimed to investigate whether there is a correlation between hearing-related genes’ promoter region methylation in the PB samples with the presence of non-syndromic sensorineural hearing loss (NSSHL) with an aim of future utilization of DNA methylation as biomarkers in hearing loss. The study included 26 patients with NSSHL and a control group of 20 healthy individuals. CpG islands in the promoter regions of the GJB-2, GJB-6, and SLC24A genes were analyzed using bisulfite sequencing, and methylation percentages were analyzed. Results Methylation levels at the 1st region of GJB-6 and the 1st and the 4th regions of SLC26A4 were found to differ significantly (p = 0.039, p = 0.042, and p = 0.029, respectively) between the patients and the control group. There was no statistically significant difference in methylation percentages of GJB-2 promoters. We also found that parents’ consanguinity determines the methylation levels in patients’ families. Conclusions According to our knowledge, this is the first study that investigates epigenetic changes in the PB of patients with NSSHL. Despite the small sample size, our findings indicate that DNA methylation patterns in the PB could be of use for understanding epigenetic changes in the inner ear and the clinical management of NSSHL. |
| first_indexed | 2024-03-09T01:21:50Z |
| format | Article |
| id | doaj.art-cc731e85107f4ed58d235ce95646d04f |
| institution | Directory Open Access Journal |
| issn | 2090-8539 |
| language | English |
| last_indexed | 2024-03-09T01:21:50Z |
| publishDate | 2023-12-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | The Egyptian Journal of Otolaryngology |
| spelling | doaj.art-cc731e85107f4ed58d235ce95646d04f2023-12-10T12:05:29ZengSpringerOpenThe Egyptian Journal of Otolaryngology2090-85392023-12-013911910.1186/s43163-023-00555-4DNA methylation in hearing-related genes in non-syndromic sensorineural hearing loss patientsOğuz Kadir Eğilmez0Sermet Can1M. Tayyar Kalcıoğlu2Berna Demircan Tan3Sarenur Yılmaz4Özgür Yiğit5Muhammed Yusuf Durna6Esra Akdeniz7Ibrahim Akalin8Department of Otorhinolaryngology, Sakarya University Training and Research HospitalThe Sir William Dunn School of Pathology, University of OxfordDepartment of Otorhinolaryngology, Faculty of Medicine, Istanbul Medeniyet UniversityDepartment of Medical Biology, Faculty of Medicine, Istanbul Medeniyet UniversityDepartment of Medical Genetics, Faculty of Medicine, Istanbul Medeniyet UniversityENT Clinic, Istanbul Training and Research HospitalENT Clinic, Istanbul Training and Research HospitalDepartment of Medical Education, Faculty of Medicine, Marmara UniversityDepartment of Medical Genetics, Faculty of Medicine, Istanbul Medeniyet UniversityAbstract Background Our understanding of epigenetic modifications in the inner ear is very limited. Although epigenetic regulation of genes related to individual organ- and system-limited pathologies are generally expected to be tissue-specific, DNA methylation patterns in peripheral blood (PB) are found to be associated with the presence of several diseases with no typical hematological involvement. Here, we aimed to investigate whether there is a correlation between hearing-related genes’ promoter region methylation in the PB samples with the presence of non-syndromic sensorineural hearing loss (NSSHL) with an aim of future utilization of DNA methylation as biomarkers in hearing loss. The study included 26 patients with NSSHL and a control group of 20 healthy individuals. CpG islands in the promoter regions of the GJB-2, GJB-6, and SLC24A genes were analyzed using bisulfite sequencing, and methylation percentages were analyzed. Results Methylation levels at the 1st region of GJB-6 and the 1st and the 4th regions of SLC26A4 were found to differ significantly (p = 0.039, p = 0.042, and p = 0.029, respectively) between the patients and the control group. There was no statistically significant difference in methylation percentages of GJB-2 promoters. We also found that parents’ consanguinity determines the methylation levels in patients’ families. Conclusions According to our knowledge, this is the first study that investigates epigenetic changes in the PB of patients with NSSHL. Despite the small sample size, our findings indicate that DNA methylation patterns in the PB could be of use for understanding epigenetic changes in the inner ear and the clinical management of NSSHL.https://doi.org/10.1186/s43163-023-00555-4NSSHLDNA methylationPeripheral bloodEpigenetic biomarkersGene promoters |
| spellingShingle | Oğuz Kadir Eğilmez Sermet Can M. Tayyar Kalcıoğlu Berna Demircan Tan Sarenur Yılmaz Özgür Yiğit Muhammed Yusuf Durna Esra Akdeniz Ibrahim Akalin DNA methylation in hearing-related genes in non-syndromic sensorineural hearing loss patients The Egyptian Journal of Otolaryngology NSSHL DNA methylation Peripheral blood Epigenetic biomarkers Gene promoters |
| title | DNA methylation in hearing-related genes in non-syndromic sensorineural hearing loss patients |
| title_full | DNA methylation in hearing-related genes in non-syndromic sensorineural hearing loss patients |
| title_fullStr | DNA methylation in hearing-related genes in non-syndromic sensorineural hearing loss patients |
| title_full_unstemmed | DNA methylation in hearing-related genes in non-syndromic sensorineural hearing loss patients |
| title_short | DNA methylation in hearing-related genes in non-syndromic sensorineural hearing loss patients |
| title_sort | dna methylation in hearing related genes in non syndromic sensorineural hearing loss patients |
| topic | NSSHL DNA methylation Peripheral blood Epigenetic biomarkers Gene promoters |
| url | https://doi.org/10.1186/s43163-023-00555-4 |
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