title: Expression pattern of wolframin, the WFS1 (Wolfram syndrome-1 gene) product, in common marmoset (Callithrix jacchus) cochlea.
abstract: Wolfram syndrome is an autosomal recessive disorder of the neuroendocrine system, known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness) syndrome, and considered an endoplasmic reticulum disease. Patients show mutations in WFS1, which encodes the 890 amino acid protein wolframin. Although Wfs1 knockout mice develop diabetes, their hearing level is completely normal. In this study, we examined the expression of wolframin in the cochlea of a nonhuman primate common marmoset (Callithrix jacchus) to elucidate the discrepancy in the phenotype between species and the pathophysiology of Wolfram syndrome-associated deafness. The marmoset cochlea showed wolframin immunoreactivity not only in the spiral ligament type I fibrocytes, spiral ganglion neurons, outer hair cells, and supporting cells, but in the stria vascularis basal cells, where wolframin expression was not observed in the previous mouse study. Considering the absence of the deafness phenotype in Wfs1 knockout mice, the expression of wolframin in the basal cells of primates may play an essential role in the maintenance of hearing. Elucidating the function of wolframin protein in the basal cells of primates would be essential for understanding the pathogenesis of hearing loss in patients with Wolfram syndrome, which may lead to the discovery of new therapeutics.
authors.affiliation: Departments of aOtorhinolaryngology, Head and Neck Surgery bPhysiology, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Noriomi
authors.initials: N
authors.lastname: Suzuki
authors.forename: Makoto
authors.initials: M
authors.lastname: Hosoya
authors.forename: Naoki
authors.initials: N
authors.lastname: Oishi
authors.forename: Hideyuki
authors.initials: H
authors.lastname: Okano
authors.forename: Masato
authors.initials: M
authors.lastname: Fujioka
authors.forename: Kaoru
authors.initials: K
authors.lastname: Ogawa
mesh_terms: D000818:Animals; D002144:Callithrix; D003051:Cochlea / Q000033:anatomy & histology / Q000378:metabolism*; D000072259:Connexin 26 / Q000378:metabolism; D005260:Female; D008297:Male; D008565:Membrane Proteins / Q000378:metabolism*; D000081412:Myosin VIIa; D009218:Myosins / Q000378:metabolism; D010641:Phenotype
chemical_list: D008565:Membrane Proteins; C000631456:Myo7a protein, mouse; D000081412:Myosin VIIa; C114987:wolframin protein; D000072259:Connexin 26; D009218:Myosins