Usher syndrome (USH) is an autosomal recessive disorder characterized by hearing loss, retinitis pigmentosa, and variable vestibular dysfunction. USH2A is one of the causative genes of USH. This study is aimed at exploring the mechanism of hearing loss induced by USH2A gene knockout.
No actionable clinical change; this is basic science research into the molecular mechanism of USH2A-related hearing loss, not yet applicable to clinical practice.
Understanding the precise mechanism by which USH2A knockout causes hearing loss could eventually guide gene therapy targets for Usher syndrome, one of the most common causes of combined deaf-blindness.
- 01USH2A gene knockout is used to model Usher syndrome, an autosomal recessive disorder.
- 02Usher syndrome involves sensorineural hearing loss, progressive vision loss (retinitis pigmentosa), and balance problems.
- 03The study focuses on uncovering the biological mechanism behind USH2A-related hearing loss.
- 04Published in Human Mutation, a peer-reviewed genetics journal.
USH2A gene knockout induces hearing loss via a specific biological mechanism.
studypartially supported- PMID
- 42253508
- DOI
- 10.1155/humu/8451291.
- Journal
- Human Mutation
- Publication type
- research_article
- Evidence level
- 4
- Population
- Animal (knockout) model of USH2A-related Usher syndrome
- Intervention
- USH2A gene knockout
- Comparator
- Wild-type controls (assumed)
Primary outcomes
Characterisation of hearing loss mechanism following USH2A knockout