Examination of MY06 Missense Variants of Uncertain Significance Associated with Autosomal Recessive Non-Syndromic Hearing Loss Utilizing C. elegans
Date
2-15-2024
Faculty Mentor
Ashley Turner, Biology
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Submission Type
Conference Proceeding
Location
11:15-11:25am | Houston Cole Library, 11th Floor
Description
Genetic research in human health has revolutionized healthcare. Hearing loss affects 5% globally, and additional research is needed to understand these complex conditions and variants of uncertain significance (VUS). This includes autosomal recessive non-syndromic hearing loss (ARNSHL), linked to MYO6. This study explores the MYO6 nematode ortholog, spe-15, utilizing C. elegans as a model organism. The hypothesis posits that introducing the MYO6 human variant (c.178G>C (p.Glu60Gln)) into spe-15 (c.199G>C (p.Gly67Gln)) results in increased unfertilized oocytes for the homozygous VUS mutant nematodes compared to the wildtype N2 nematodes. Bioinformatics confirmed variant conservation, and hands-on experiments resulted in successful nematode DNA extraction and PCR and gel electrophoresis to amplify the spe-15 VUS region. The study advances understanding of MYO6 missense variants associated with ARNSHL, supporting further CRISPR-Cas9 experiments to generate the mutant strain and examine the MYO6 VUS in vivo. Employing C. elegans offers a promising avenue for investigating the potential impact of MYO6 VUS on ARNSHL and human health.
Keywords
student research, biology
Rights
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Disciplines
Biology
Recommended Citation
Herman, Tarika, "Examination of MY06 Missense Variants of Uncertain Significance Associated with Autosomal Recessive Non-Syndromic Hearing Loss Utilizing C. elegans" (2024). JSU Student Symposium 2024. 1.
https://digitalcommons.jsu.edu/ce_jsustudentsymp_2024/1