Absence of SERPINB6A Causes Sensorineural Hearing Loss with Multiple Histopathologies in the Mouse Inner Ear
Justin Tan, Monica D Prakash, Dion Kaiserman, Phillip I Bird
AMERICAN JOURNAL OF PATHOLOGY | ELSEVIER SCIENCE INC | Published : 2013
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. Measurement..View full abstract
Awarded by National Health and Medical Research Council (Australia)
Supported by National Health and Medical Research Council (Australia) Program Grant 490900 and Project Grant 1019941.