Abstract
ARHL has been thought to result from disordered hair cell function and their loss. ARHL has a significant genetic component. We sought to determine the expression in the cochlea of genes associated with single nucleotide polymorphisms linked to ARHL. We find widespread and varying expression of genes associated with these SNPs in subtypes of cells in the cochlea identified by single-cell RNA sequencing. Genes associated with SNPs with the highest significance were preferentially expressed highly in hair cells, while genes associated with SNPs with a lower significance were expressed more universally. In addition, we find significant overlap with genesets associated with Alzheimer's disease suggesting shared mechanisms, and genesets enriched for apical cell polarity and vesicle recycling suggesting mechanisms of cell death/ dysfunction with ageing.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
