Pathogenic variants in the GJB2 gene are the most common genetic cause of congenital sensorineural hearing loss and are mostly associated with an autosomal recessive non-syndromic deafness 1A (DFNB1A).
Eosinophilic otitis media (EOM) is a type 2-related otitis media. Scientists at the Hirosaki University Graduate School of Medicine have developed a new EOM animal model in guinea pigs by using the plant protease papain. Papin was intratympanically administered in a daily basis. They also investigated the expression of innate lymphoid cell type 2 (ILC2) in the middle ear mucosa of these animals.
Lysine demethylase 6A (KDM6A) is a demethylase that plays a key role at regulating developmental gene expression signatures in several tissues, including neuronal cells. The KDM6A gene is located in chromosome X and pathogenic variants in this gene are tied to Kabuki syndrome type 2. Even though progress in understanding the functions of KDM6A has been made, its role in cochlear development and auditory function remains poorly understood.