English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Significance This study identifies a mutation in theNLRP3 gene that causes sensorineural hearing loss in human patients.NLRP3 encodes a protein important for innate immunity, secretion of the potent cytokine IL-1β, and inflammation. The hearing loss in three affected members of one family improved or completely resolved after treatment with IL-1β blockade therapy. This study shows that the mouseNlrp3 gene is expressed in immune macrophage-like cells throughout the inner ear, which can be activated to release the potent cytokine IL-1β. These observations suggest that mutations ofNLRP3 may cause hearing loss by local autoinflammation within the inner ear. This mechanism could underlie a variety of hearing-loss disorders of unknown etiology that might respond to IL-1β blockade therapy.

NLRP3 mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy