Slc26a4-insufficiency causes fluctuating hearing loss and stria vascularis dysfunction
نویسندگان
چکیده
منابع مشابه
Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing loss
Sensorineural hearing loss (SNHL) is one of the most common congenital disorders in humans, afflicting one in every thousand newborns. The majority is of heritable origin and can be divided in syndromic and nonsyndromic forms. Knowledge of the expression profile of affected genes in the human fetal cochlea is limited, and as many of the gene mutations causing SNHL likely affect the stria vascul...
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IT IS WELL KNOWN (1, 2, 12, 6) that, when a recording microelectrode is pushed into the endolympatic space of the cochlea of a guinea pig or a cat, the potential at the tip of the electrode rises 70-90 mV. above the potential level in the perilymphatic space. Although the ionic composition of the endolymph is unique among various body fluids because of its high potassium content (lo), the DC po...
متن کاملClaudins in stria vascularis marginal cells
Background: In epithelia, tight junction proteins form paracellular permeability barriers between the extracellular compartments. Claudins (20-28 kDa proteins) are essential components of the junctional strands. Knowledge of claudins in the inner ear cochlea is fragmentary: Hair cells express claudin-14, and its absence causes deafness. Marginal cells of the stria vascularis separate K-rich end...
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Introduction: The prevalence of unilateral sensory neural hearing loss is 3 to 6 in every 1000 people and this prevalence will be about 3 to 5 percent by including conductive hearing loss. Studies have shown that people with unilateral hearing loss are having problems in speech and language development. Nowadays the available options for treatment and rehabilitation of people with unilateral he...
متن کاملFree radical stress-mediated loss of Kcnj10 protein expression in stria vascularis contributes to deafness in Pendred syndrome mouse model.
Pendred syndrome is due to loss-of-function mutations of Slc26a4, which codes for the HCO(3)(-) transporter pendrin. Loss of pendrin causes deafness via a loss of the K(+) channel Kcnj10 in stria vascularis and consequent loss of the endocochlear potential. Pendrin and Kcnj10 are expressed in different cell types. Here, we report that free radical stress provides a link between the loss of Kcnj...
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ژورنال
عنوان ژورنال: Neurobiology of Disease
سال: 2014
ISSN: 0969-9961
DOI: 10.1016/j.nbd.2014.02.002