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</script>Absence of SERPINB6A Causes Sensorineural Hearing Loss with Multiple Histopathologies in the Mouse Inner Ear
pmid: 23669344
Absence of SERPINB6A Causes Sensorineural Hearing Loss with Multiple Histopathologies in the Mouse Inner Ear
A homozygous mutation of SERPINB6, a gene encoding an intracellular protease inhibitor, has recently been associated with post-lingual, autosomal-recessive, nonsyndromic hearing loss in humans (DFNB91). Herein, we describe the physiological changes underlying SERPINB6 deficiency by analyzing mutant mice in which the orthologous gene is replaced by enhanced green fluorescent protein. SERPINB6A is present in the neurosensory epithelium, lateral wall, and spiral limbus of the cochlea, with highest levels in the inner and outer hair cells of the organ of Corti, cells lining the inner sulcus, and supporting cells distributed along the epithelial gap junction layer to the outer sulcus. Measurements of hearing thresholds in these mice demonstrated age-related hearing loss in all homozygous-null, but not heterozygous, mice. Hearing impairment was first detected at 3 weeks of age, affecting only high frequencies before spreading to other frequencies as the mice aged. The defect is associated with progressive cellular degeneration within the cochlea. This begins with the hair cells, then involves the primary auditory neurons, and, finally, the fibrocytes in the lateral wall. These findings establish these mutant mice as a suitable model system to elucidate how SERPINB6 deficiency causes deafness in humans.
- University of Melbourne Australia
- Victoria University Australia
- Monash University, Clayton campus Australia
- Monash University Australia
Mice, Knockout, College of Health and Biomedicine, Hearing Loss, Sensorineural, Age Factors, 610, 1103 Clinical Sciences, hearing impairment, Cochlea, Mice, intracellular protease inhibitor, Animals, neurosensory epithelium, Organ of Corti, Biomarkers, Serpins
Mice, Knockout, College of Health and Biomedicine, Hearing Loss, Sensorineural, Age Factors, 610, 1103 Clinical Sciences, hearing impairment, Cochlea, Mice, intracellular protease inhibitor, Animals, neurosensory epithelium, Organ of Corti, Biomarkers, Serpins
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