Publication Date
9-28-2023
Journal
Acta Medica Philippina
DOI
10.47895/amp.v57i9.5200
PMID
37990697
PMCID
PMC10662870
PubMedCentral® Posted Date
9-28-2023
PubMedCentral® Full Text Version
Post-print
Published Open-Access
yes
Keywords
GJB2, hearing loss, methylation, qMSP, RB1, sensorineural
Abstract
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
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.
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