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Related Experiment Video

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Genetic Hearing Loss Associated With Autoinflammation.

Hiroshi Nakanishi1,2, Pragya Prakash2, Taku Ito2,3

  • 1Department of Otorhinolaryngology/Head & Neck Surgery, Hamamatsu University School of Medicine, Hamamatsu, Japan.

Frontiers in Neurology
|March 21, 2020
PubMed
Summary

Genetic mutations in the NLRP3 gene can cause sensorineural hearing loss through cochlear autoinflammation. This study investigates the role of NLRP3 inflammasome activation in macrophage-like cells within the cochlea, linking it to hearing impairment.

Keywords:
NLRP3Pendred syndromeSLC26A4cryopyrin-associated periodic syndromeshearing lossinterleukin-1βmacrophage

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Area of Science:

  • Otolaryngology
  • Immunology
  • Genetics

Background:

  • Sensorineural hearing loss (SNHL) pathophysiology is poorly understood due to the inaccessibility of the human inner ear.
  • The inner ear was previously considered immune-privileged.
  • Recent findings link NLRP3 gene mutations to SNHL with cochlear autoinflammation.

Purpose of the Study:

  • To investigate the hypothesis that cochlear macrophage/monocyte-like cells mediate local autoinflammation via NLRP3 inflammasome activation.
  • To explore the role of NLRP3 inflammasome in SNHL.

Main Methods:

  • Analysis of patients with NLRP3 mutations and sensorineural hearing loss.
  • Investigation of NLRP3 inflammasome activation in mouse cochlear macrophage/monocyte-like cells.
  • Association studies in a mouse model of deafness (Slc26a4-insufficient).

Main Results:

  • A missense mutation in the NLRP3 gene was associated with autosomal-dominant SNHL and cochlear autoinflammation.
  • NLRP3 inflammasome activation and IL-1β secretion were confirmed in mouse cochlear macrophage/monocyte-like cells.
  • These cells were linked to hearing loss in a mouse model.

Conclusions:

  • NLRP3 inflammasome activation in cochlear macrophage/monocyte-like cells contributes to autoinflammatory hearing loss.
  • This provides a novel understanding of genetic hearing loss mechanisms.
  • Targeting autoinflammation may offer new therapeutic avenues for SNHL.