دورية أكاديمية
Lack of Methylation Changes in GJB2 and RB1 Non-coding Regions of Cochlear Implant Patients with Sensorineural Hearing Loss.
| العنوان: | Lack of Methylation Changes in GJB2 and RB1 Non-coding Regions of Cochlear Implant Patients with Sensorineural Hearing Loss. |
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| المؤلفون: | Sumalde AAM; College of Medicine, University of the Philippines Manila, Manila, Philippines.; Department of Otolaryngology - Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus (CU-AMC), Aurora, Colorado, USA.; Department of Otolaryngology-Head and Neck Surgery, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines., Yang IV; Department of Medicine, School of Medicine, University of Colorado Anschutz Medical Campus (CU-AMC), Aurora, Colorado, USA., Yarza TKL; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines., Tobias-Grasso CAM; MED-EL, Innsbruck, Austria., Tantoco MLC; Department of Otolaryngology-Head and Neck Surgery, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines., Davidson E; Department of Medicine, School of Medicine, University of Colorado Anschutz Medical Campus (CU-AMC), Aurora, Colorado, USA., Chan AL; College of Medicine, University of the Philippines Manila, Manila, Philippines.; Department of Otolaryngology-Head and Neck Surgery, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines., Azamian MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Cruz TLG; College of Medicine, University of the Philippines Manila, Manila, Philippines.; Department of Otolaryngology-Head and Neck Surgery, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Reyes-Quintos MRT; Department of Otolaryngology-Head and Neck Surgery, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines., Cutiongco-de la Paz EM; National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Philippine Genome Center, UP Diliman Campus, Quezon City, Philippines., Santos-Cortez RLP; Department of Otolaryngology - Head and Neck Surgery, School of Medicine, University of Colorado Anschutz Medical Campus (CU-AMC), Aurora, Colorado, USA., Chiong CM; College of Medicine, University of the Philippines Manila, Manila, Philippines.; Department of Otolaryngology-Head and Neck Surgery, Philippine General Hospital, University of the Philippines Manila, Manila, Philippines.; Philippine National Ear Institute, National Institutes of Health, University of the Philippines Manila, Manila, Philippines.; Newborn Hearing Screening Reference Center, National Institutes of Health, University of the Philippines Manila, Manila, Philippines. |
| المصدر: | Acta medica Philippina [Acta Med Philipp] 2023 Sep 28; Vol. 57 (9), pp. 116-120. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: College Of Medicine And Institute Of Hygiene University Of The Philipines Country of Publication: Philippines NLM ID: 0312677 Publication Model: Print Cited Medium: Print ISSN: 0001-6071 (Print) Linking ISSN: 00016071 NLM ISO Abbreviation: Acta Med Philipp |
| أسماء مطبوعة: | Original Publication: Manila : College Of Medicine And Institute Of Hygiene University Of The Philipines |
| مستخلص: | Objective: Recent advances in epigenetic studies continue to reveal novel mechanisms of gene regulation and control, however little is known on the role of epigenetics in sensorineural hearing loss (SNHL) in humans. We aimed to investigate the methylation patterns of two regions, one in RB1 and another in GJB2 in Filipino patients with SNHL compared to hearing control individuals. Methods: We investigated an RB1 promoter region that was previously identified as differentially methylated in children with SNHL and lead exposure. Additionally, we investigated a sequence in an enhancer-like region within GJB2 that contains four CpGs in close proximity. Bisulfite conversion was performed on salivary DNA samples from 15 children with SNHL and 45 unrelated ethnically-matched individuals. We then performed methylation-specific real-time PCR analysis (qMSP) using TaqMan ® probes to determine percentage methylation of the two regions. Results: Using qMSP, both our cases and controls had zero methylation at the targeted GJB2 and RB1 regions. Conclusion: Our study showed no changes in methylation at the selected CpG regions in RB1 and GJB2 in the two comparison groups with or without SNHL. This may be due to a lack of environmental exposures to these target regions. Other epigenetic marks may be present around these regions as well as those of other HL-associated genes. Competing Interests: Author Disclosure All authors declared no conflicts of interest. |
| References: | Clin Genet. 2019 May;95(5):634-636. (PMID: 30828794) Biochem Biophys Res Commun. 2014 Sep 26;452(3):340-6. (PMID: 25159847) Hum Mutat. 2019 Aug;40(8):1156-1171. (PMID: 31009165) Nucleic Acids Res. 2000 Apr 15;28(8):E32. (PMID: 10734209) Chemosphere. 2020 May;246:125829. (PMID: 31927382) Am J Hum Genet. 2018 Oct 4;103(4):484-497. (PMID: 30245029) Am J Hum Genet. 2013 Aug 8;93(2):197-210. (PMID: 23810381) Genes (Basel). 2021 Apr 13;12(4):. (PMID: 33924653) PLoS One. 2018 Mar 12;13(3):e0193496. (PMID: 29529061) Nat Genet. 2009 May;41(5):609-13. (PMID: 19363479) Biol Proced Online. 2019 Oct 1;21:19. (PMID: 31582911) Dev Biol. 2016 Mar 15;411(2):294-300. (PMID: 26826496) Hear Res. 2007 Nov;233(1-2):1-13. (PMID: 17723285) Nature. 2008 Aug 7;454(7205):766-70. (PMID: 18600261) Mamm Genome. 2009 Sep-Oct;20(9-10):581-603. (PMID: 19876605) Otol Neurotol. 2018 Sep;39(8):e726-e730. (PMID: 30113565) Hum Genome Var. 2018 Mar 29;5:18008. (PMID: 29619235) Transl Psychiatry. 2019 Jan 31;9(1):47. (PMID: 30705257) Am J Med Genet B Neuropsychiatr Genet. 2015 Jan;168B(1):36-44. (PMID: 25355443) Gene. 2020 Nov 30;761:144996. (PMID: 32738421) |
| معلومات مُعتمدة: | R01 DC019642 United States DC NIDCD NIH HHS |
| فهرسة مساهمة: | Keywords: GJB2; RB1; hearing loss; methylation; qMSP; sensorineural |
| تواريخ الأحداث: | Date Created: 20231122 Latest Revision: 20231124 |
| رمز التحديث: | 20231124 |
| مُعرف محوري في PubMed: | PMC10662870 |
| DOI: | 10.47895/amp.v57i9.5200 |
| PMID: | 37990697 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 0001-6071 |
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| DOI: | 10.47895/amp.v57i9.5200 |