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[The experimental study on endoplasmic reticulum stress-participated outer hair cell apoptosis in cadherin 23 gene mutant mice].

Objective: To test the mechanism and upstream pathway of outer hair cell apoptosis in Cadherin 23 (Cdh23) gene mutant mice. Method: The muta … lized at the top of the OHC in B6 mice, indicating the localization of the tip links in hair bundle stereocilia. On the contrary, the CDH23(erl) protein was found to be localized from the top to the nuclei of the OHC in erl mice. Portions of the CDH23(erl) proteins failed to reach the top of the hair bundles and remained in the OHC cytoplasm. Conclusion: As t …

Molecular aetiology of ski-slope hearing loss and audiological course of cochlear implantees.

PURPOSE: A challenge for patients with ski-slope hearing loss is that hearing aids do not adequately amplify the mid-to-high frequencies nec … z) eligible for electric-acoustic stimulation (EAS). A trend was found that patients with hair cell stereocilia-associated genetic variants may have a slightly better preservation, albeit with no statistical significance. CONCLUSION: Detection rate of a molecular genetic aetiology of ski-slope hearing loss appears to be lower than other type of hearing loss …

Disruption of tmc1/2a/2b Genes in Zebrafish Reveals Subunit Requirements in Subtypes of Inner Ear Hair Cells.

Detection of sound and head movement requires mechanoelectrical transduction (MET) channels at tips of hair-cell stereocilia. In vertebrates, the transmembrane channel-like (TMC) proteins TMC1 and TMC2 fulfill critical roles in MET, and substantial evidence implicates these TMCs as subunits of the MET channel. To identify developmental and functional roles of this Tmc subfamily in the zebrafish inner ear, we tested the effects of truncating mutations in tmc1, tmc2a, and tmc2b on in vivo mechanosensation at the onset of hearing and balance, before gender differentiation. We find that tmc1/2a/2b…

Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation.

BACKGROUND: Dystonia-deafness syndrome is a well-known clinical entity, with sensorineural deafness typically manifesting earlier than dysto … ions of beta-actin in neural crest migration and proliferation (facial dysmorphogenesis), hair cell stereocilia function (infant-onset deafness), and altered synaptic activity patterns associated with pubertal changes in striatal function (adolescent-onset dystonia). The temporal differences in developmental onset are likely due to varying degrees of suscepti …

Finite Element Modeling of Organ of Cortis Throughout the Cochlea During Blast Wave Transmission.

INTRODUCTION: Exposure to blast overpressures in the line of duty causes many service members and veterans to suffer inner ear injuries and … y outer hair cells (OHCs) and the strain at the connection between the tectorial membrane (TcM) and stereociliary hair bundles (HBs) were used as the primary metrics that could indicate injury to the OC. The basal turn OC model reported the highest stress on the OHCs, with a maximum von Mises stress of 0.84 kPa. OHC stress is associated with hair cell apoptos …

Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease.

Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. It is clinically and genetically heterogeneous and at lea … in network. In the inner ear, these interactions are essential for the differentiation of hair cell stereocilia but may also participate in the mechano-electrical signal transduction and the synaptic function of maturated hair cells. In the retina, the co-expression of all USH1 and USH2 proteins at the synapse of photoreceptor cells indicates that they are or …

The effect of an age-related hearing loss gene (Ahl) on noise-induced hearing loss and cochlear damage from low-frequency noise.

Inbred C57BL/6J mice carry two copies of an age-related hearing loss gene (Ahl). It has been shown that these mice begin losing high-frequen … pex to base to quantify the losses of hair cells, nerve fibers and stria vascularis and to localize stereocilia damage. Functional data from each mouse were aligned with the cytocochleogram using the frequency-place map of Ou et al. [Hear. Res. 145 (2000) 111; Hear. Res. 145 (2000) 123]. Sizable variation in the magnitude of TTS, PTS and hair-cell loss was fo …

The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway.

Ciliopathies are a group of developmental disorders that manifest with multi-organ anomalies. Mutations in TMEM67 (MKS3) cause a range of human ciliopathies, including Meckel-Gruber and Joubert syndromes. In this study we describe multi-organ developmental abnormalities in the Tmem67(tm1Dgen/H1) knockout mouse that closely resemble those seen in Wnt5a and Ror2 knockout mice. These include pulmonary hypoplasia, ventricular septal defects, shortening of the body longitudinal axis, limb abnormalities, and cochlear hair cell stereociliary bundle orientation and basal body/kinocilium positioning de…

Effects and mechanisms of Eps8 on the biological behaviour of malignant tumours (Review).

Epidermal growth factor receptor pathway substrate 8 (Eps8) was initially identified as the substrate for the kinase activity of EGFR, improving the responsiveness of EGF, which is involved in cell mitosis, differentiation and other physiological functions. Numerous studies over the last decade have demonstrated that Eps8 is overexpressed in most ubiquitous malignant tumours and subsequently binds with its receptor to activate multiple signalling pathways. Eps8 not only participates in the regulation of malignant phenotypes, such as tumour proliferation, invasion, metastasis and drug resistanc

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… In addition, Eps8 is also a new pathogenic gene for autosomal recessive profound deafness that encodes the actin of cochlear hair cell stereocilia ( 28 ). In summary, Eps8 potentially represents a novel biomarker for cancer diagnosis and a promising candidate for cancer therapy. Table I. … EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness. Orphanet J Rare Dis. 2014;9:55. doi: 10.1186/1750-1172-9-55. 29. Morton CJ, Pugh DJ, Brown EL, Kahmann JD, Renzoni DA, Campbell ID. …

Weakened Cochlear Nonlinearity During Human Aging and Perceptual Correlates.

OBJECTIVE: As humans age, compressive nonlinearity-a hallmark of healthy cochlear function-changes. The nonlinear distortion-component of th … nown. It is hypothesized to reflect aging-related damage to, or loss of, outer hair cells and their stereocilia. More work is warranted to better define the perceptual impact of a linearized cochlear response in older adults and to consider how this deficit might impact the fitting of hearing aids and other intervention strategies.

Actual problems of the cerebrospinal fluid-contacting neurons.

Cerebrospinal fluid (CSF)-contacting neurons form a part of the circumventricular organs of the central nervous system. Represented by diffe … itic pole of these medullospinal CSF-contacting neurons terminates with an enlargement bearing many stereocilia in the central canal. These cells are also supplied with a 9 x 2 + 2 kinocilium that may contact Reissner's fiber, the condensed secretory material of the subcommissural organ. The Reissner's fiber floating freely in the CSF leaves the central canal …

Четвертое Международное совещание ИСЕВ, ISEV2015.

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