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Genome-wide association study for age-related hearing loss in CFW mice
Oksana Polesskaya1, Ely Boussaty2, Riyan Cheng1
1Department of Psychiatry, University of California San Diego, La Jolla, CA, 92093, USA.
Biorxiv : the Preprint Server for Biology
|June 25, 2024
Summary
Researchers identified genetic factors contributing to age-related hearing loss (ARHL) in mice. They found that Prkag2 deficiency causes high-frequency hearing impairment, suggesting it as a potential therapeutic target for ARHL.
Area of Science:
- Genetics
- Auditory Neuroscience
- Gerontology
Background:
- Age-related hearing loss (ARHL) is a widespread condition in the elderly, influenced by genetic and environmental factors.
- The mouse inner ear is a valuable model for studying human hearing due to genetic and functional homology.
- Understanding the genetic basis of ARHL is crucial for developing effective interventions.
Purpose of the Study:
- To identify genetic loci associated with age-related hearing loss (ARHL) in a genetically diverse mouse model.
- To investigate the molecular mechanisms underlying hearing impairment in aging mice.
- To discover potential therapeutic targets for preventing or treating ARHL.
Main Methods:
- Auditory Brainstem Response (ABR) thresholds were measured in 946 Carworth Farms White (CFW) mice at 1, 6, and 10 months of age.
- Low-coverage whole-genome sequencing and imputation were used to obtain genotypes for millions of single nucleotide polymorphisms (SNPs).
- Genome-wide association analysis was performed to identify genetic regions linked to ARHL traits and candidate genes.
Main Results:
- SNP heritability for ARHL traits varied from 0% to 42%.
- Genome-wide association analysis revealed several genomic regions associated with ARHL, including those containing genes like Dnah11, Rapgef5, Cpne4, Prkag2, and Nek11.
- Functional studies confirmed that Prkag2 deficiency leads to high-frequency age-related hearing loss in mice.
Conclusions:
- The study successfully identified genetic loci and candidate genes contributing to ARHL in CFW mice.
- Prkag2 is highlighted as a significant candidate gene for ARHL, warranting further investigation.
- This research provides valuable insights into the genetic underpinnings of ARHL and potential targets for therapeutic development.
