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Slc4a11 gene disruption in mice: cellular targets of sensorineuronal abnormalities
Ivan A Lopez1, Mark I Rosenblatt, Charles Kim
1Division of Head and Neck, David Geffen School of Medicine at UCLA, Los Angeles, California 90095, USA.
The Journal of Biological Chemistry
|July 10, 2009
Summary
The sodium borate cotransporter NaBC1 (SLC4A11) is crucial for audio-vestibular function. Slc4a11(-/-) mice exhibit hearing and balance deficits, highlighting NaBC1
Area of Science:
- Genetics and Molecular Biology
- Ophthalmology
- Otolaryngology
Background:
- NaBC1 (SLC4A11) is a sodium-coupled bicarbonate transporter.
- Mutations in SLC4A11 cause corneal dystrophy or Harboyan syndrome (hearing and vision impairment).
- The function of NaBC1 in sensory systems is largely unknown.
Purpose of the Study:
- To investigate the role of NaBC1 in the audio-vestibular system using a Slc4a11(-/-) mouse model.
- To examine the corneal phenotype in Slc4a11(-/-) mice.
Main Methods:
- Generation and analysis of Slc4a11(-/-) mice.
- Immunohistochemical detection of NaBC1 in cochlear and vestibular tissues.
- Auditory brain response and vestibular evoked potential testing.
- Ocular examination including slit lamp evaluation and corneal thickness measurements.
Main Results:
- NaBC1 was detected in cochlear spiral ligament fibrocytes and vestibular labyrinth stromal cells.
- Slc4a11(-/-) mice displayed abnormal auditory and vestibular function.
- While corneal NaBC1 expression was noted, the corneal phenotype in mice was mild, with increased basal epithelial cell height.
Conclusions:
- NaBC1 plays a significant role in the audio-vestibular system.
- SLC4A11 is a potential candidate gene for isolated sensorineural hearing and vestibular abnormalities.
- The mouse model provides insights into NaBC1 function despite a mild corneal phenotype.
