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Elsevier, The American Journal of Pathology, 1(183), p. 49-59, 2013

DOI: 10.1016/j.ajpath.2013.03.009

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Absence of SERPINB6A Causes Sensorineural Hearing Loss with Multiple Histopathologies in the Mouse Inner Ear

Journal article published in 2013 by Justin Tan, Monica D. Prakash, Dion Kaiserman, Phillip I. Bird ORCID
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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.