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Partial Deafness: From Molecular Basis to Therapy

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A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: closed (31 March 2022) | Viewed by 11498

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Special Issue Editors

Prof. Dr. Henryk Skarzynski

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Guest Editor

1. Institute of Physiology and Pathology of Hearing, Mochnackiego 10, 02-042 Warsaw, Poland
2. World Hearing Center, Mokra 17 Street, Kajetany, 05-830 Nadarzyn, Poland
Interests: otology; rhinology; implantable hearing devices; tinnitus; telemedicine; partial deafness treatment

Prof. Dr. Piotr Henryk Skarzynski

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Guest Editor

1. Department of Teleaudiology and Screening, World Hearing Center, Institute of Physiology and Pathology of Hearing, 05-830 Kajetany, Poland
2. Institute of Sensory Organs, 05-830 Kajetany, Poland
Interests: otorhinolaryngology; pediatric otorhinolaryngology; audiology, hearing loss; deafness; partial deafness treatment; hearing aids; hearing implants; implantable devices; otology; tinnitus; telemedicine; teleaudiology; hearing screening; speech disorders; central auditory processing disorders; rhinology; middle ear surgery; otosclerosis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Normal hearing is one of the most important human senses. According to the World Health Organization, around 466 million people in the world have hearing impairments caused by various factors. Hearing is a complex process and can be distracted at many levels. That is why it is necessary to examine the hearing path and process, including possible hearing impairments. In order to gain valuable knowledge about hearing, we need to start from the beginning, meaning the molecular and genetic basis. One of the common hearing problems is partial deafness, which is a type of hearing loss. Patients with partial deafness hear quite well at low frequencies, but fail to hear at high frequencies. It is important to know the nature of the disorder to provide the best treatment. Partial Deafness Treatment (PDT) aims to restore the patient’s ability to hear and understand speech in the complex listening environment. At the same time the preservation of the functional residual hearing is the key of successful rehabilitation. Partial deafness treatment can also be planned in patients with vestibular disorders.

The main aim of this Special Issue is to provide knowledge; share personal experiences, current strategies, and expectations in the diagnostic process and treatment of partial deafness, surgery and rehabilitation after different procedures connected with treatment of hearing loss, beginning from the molecular basis.

Prof. Dr. Henryk Skarzynski
Prof. Dr. Piotr Henryk Skarzynski
Guest Editors

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Keywords

partial deafness treatment
PDT
partial deafness
hearing loss
ENT
vestibular disorders
cochlear implantation
cochlear implant
molecular basis
hair cells
cochlea
hearing implants

Published Papers (5 papers)

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Research

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13 pages, 1552 KiB

Open AccessArticle

Searching for the Molecular Basis of Partial Deafness

by Dominika Oziębło, Natalia Bałdyga, Marcin L. Leja, Henryk Skarżyński and Monika Ołdak

Int. J. Mol. Sci. 2022, 23(11), 6029; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms23116029 - 27 May 2022

Cited by 1 | Viewed by 1594

Abstract

Hearing is an important human sense for communicating and connecting with others. Partial deafness (PD) is a common hearing problem, in which there is a down-sloping audiogram. In this study, we apply a practical system for classifying PD patients, used for treatment purposes, to distinguish two groups of patients: one with almost normal hearing thresholds at low frequencies (PDT-EC, n = 20), and a second group with poorer thresholds at those same low frequencies (PDT-EAS, n = 20). After performing comprehensive genetic testing with a panel of 237 genes, we found that genetic factors can explain a significant proportion of both PDT-EC and PDT-EAS hearing losses, accounting, respectively, for approx. one-fifth and one-half of all the cases in our cohort. Most of the causative variants were located in dominant and recessive genes previously linked to PD, but more than half of the variants were novel. Among the contributors to PDT-EC we identified OSBPL2 and SYNE4, two relatively new hereditary hearing loss genes with a low publication profile. Our study revealed that, for all PD patients, a postlingual hearing loss more severe in the low-frequency range is associated with a higher detection rate of causative variants. Isolating a genetic cause of PD is important in terms of prognosis, therapeutic effectiveness, and risk of recurrence. Full article

(This article belongs to the Special Issue Partial Deafness: From Molecular Basis to Therapy)

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9 pages, 2647 KiB

Open AccessArticle

Pravastatin Administration Alleviates Kanamycin-Induced Cochlear Injury and Hearing Loss

by Chang Ho Lee, Jiwon Jeon, So Min Lee and So Young Kim

Int. J. Mol. Sci. 2022, 23(9), 4524; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms23094524 - 20 Apr 2022

Cited by 3 | Viewed by 1483

Abstract

The effect of statins on aminoglycoside-induced ototoxicity is controversial. This study aimed to explore the role of pravastatin (PV) in kanamycin-induced hearing loss in rats. Adult rats were intraperitoneally treated with 20 mg/kg/day of kanamycin (KM) for 10 days. In the PV- and PV + KM-treated rats, 25 mg/kg/day of PV was intraperitoneally administered for 5 days. The auditory brainstem response (ABR) thresholds were measured before and after drug treatment using a smartEP system at 4, 8, 16, and 32 kHz. Cochlear changes in poly ADP-ribose (PAR) polymerase (PARP), PAR, and caspase 3 were estimated using Western blotting. PV administration did not increase the ABR thresholds. The KM-treated rats showed elevated ABR thresholds at 4, 8, 16, and 32 kHz. The PV + KM-treated rats demonstrated lower ABR thresholds than the KM-treated rats at 4, 8, and 16 kHz. The cochlear outer hair cells and spiral ganglion cells were relatively preserved in the PV + KM-treated rats when compared with that in the KM-treated rats. The cochlear expression levels of PARP, PAR, and caspase 3 were higher in the KM-treated rats. The PV + KM-treated rats showed lower levels of PARP, PAR, and caspase 3 than the KM-treated rats. PV protected cochleae from KM-induced hearing loss in rats. The regulation of autophagy and apoptosis mediated the otoprotective effects of PV. Full article

(This article belongs to the Special Issue Partial Deafness: From Molecular Basis to Therapy)

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14 pages, 36627 KiB

Open AccessArticle

Functional Characterization of the MYO6 Variant p.E60Q in Non-Syndromic Hearing Loss Patients

by Moza Alkowari, Meritxell Espino-Guarch, Sahar Daas, Doua Abdelrahman, Waseem Hasan, Navaneethakrishnan Krishnamoorthy, Abbirami Sathappan, Patrick Sheehan, Nicholas Van Panhuys, The Qatar Genome Program Research Consortium and Xavier Estivill

Int. J. Mol. Sci. 2022, 23(6), 3369; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms23063369 - 21 Mar 2022

Cited by 1 | Viewed by 2768

Abstract

Hereditary hearing loss (HHL) is a common genetic disorder accounting for at least 60% of pre-lingual deafness in children, of which 70% is inherited in an autosomal recessive pattern. The long tradition of consanguinity among the Qatari population has increased the prevalence of HHL, which negatively impacts the quality of life. Here, we functionally validated the pathogenicity of the c.178G>C, p.E60Q mutation in the MYO6 gene, which was detected previously in a Qatari HHL family, using cellular and animal models. In vitro analysis was conducted in HeLa cells transiently transfected with plasmids carrying MYO6^W^T or MYO6^p.E60Q, and a zebrafish model was generated to characterize the in vivo phenotype. Cells transfected with MYO6^WT showed higher expression of MYO6 in the plasma membrane and increased ATPase activity. Modeling the human MYO6 variants in zebrafish resulted in severe otic defects. At 72 h post-injection, MYO6^p.E60Q embryos demonstrated alterations in the sizes of the saccule and utricle. Additionally, zebrafish with MYO6^p.E60Q displayed super-coiled and bent hair bundles in otic hair cells when compared to control and MYO6^WT embryos. In conclusion, our cellular and animal models add support to the in silico prediction that the p.E60Q missense variant is pathogenic and damaging to the protein. Since the c.178G>C MYO6 variant has a 0.5% allele frequency in the Qatari population, about 400 times higher than in other populations, it could contribute to explaining the high prevalence of hearing impairment in Qatar. Full article

(This article belongs to the Special Issue Partial Deafness: From Molecular Basis to Therapy)

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13 pages, 5293 KiB

Open AccessArticle

Junctional Modulation of Round Window Membrane Enhances Dexamethasone Uptake into the Inner Ear and Recovery after NIHL

by Seong-Hun Jeong, Yoonjoong Kim, Ah-Ra Lyu, Sun-Ae Shin, Tae Hwan Kim, Yang Hoon Huh, A Reum Je, Akanksha Gajibhiye, Yang Yu, Yongde Jin, Min Jung Park and Yong-Ho Park

Int. J. Mol. Sci. 2021, 22(18), 10061; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms221810061 - 17 Sep 2021

Cited by 5 | Viewed by 2214

Abstract

Delivery of substances into the inner ear via local routes is increasingly being used in clinical treatment. Studies have focused on methods to increase permeability through the round window membrane (RWM) and enhance drug diffusion into the inner ear. However, the clinical applications of those methods have been unclear and few studies have investigated the efficacy of methods in an inner ear injury model. Here, we employed the medium chain fatty acid caprate, a biologically safe, clinically applicable substance, to modulate tight junctions of the RWM. Intratympanic treatment of sodium caprate (SC) induced transient, but wider, gaps in intercellular spaces of the RWM epithelial layer and enhanced the perilymph and cochlear concentrations/uptake of dexamethasone. Importantly, dexamethasone co–administered with SC led to significantly more rapid recovery from noise-induced hearing loss at 4 and 8 kHz, compared with the dexamethasone-only group. Taken together, our data indicate that junctional modulation of the RWM by SC enhances dexamethasone uptake into the inner ear, thereby hastening the recovery of hearing sensitivity after noise trauma. Full article

(This article belongs to the Special Issue Partial Deafness: From Molecular Basis to Therapy)

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15 pages, 1176 KiB

Open AccessCase Report

De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser–Winter Syndrome

by Mateusz Dawidziuk, Anna Kutkowska-Kazmierczak, Ewelina Bukowska-Olech, Marta Jurek, Ewa Kalka, Dorothy Lys Guilbride, Mariusz Ireneusz Furmanek, Monika Bekiesinska-Figatowska, Jerzy Bal and Pawel Gawlinski

Int. J. Mol. Sci. 2022, 23(2), 692; https://0-doi-org.brum.beds.ac.uk/10.3390/ijms23020692 - 08 Jan 2022

Cited by 3 | Viewed by 2179

Abstract

Actin molecules are fundamental for embryonic structural and functional differentiation; γ-actin is specifically required for the maintenance and function of cytoskeletal structures in the ear, resulting in hearing. Baraitser–Winter Syndrome (B-WS, OMIM #243310, #614583) is a rare, multiple-anomaly genetic disorder caused by mutations in either cytoplasmically expressed actin gene, ACTB (β-actin) or ACTG1 (γ-actin). The resulting actinopathies cause characteristic cerebrofrontofacial and developmental traits, including progressive sensorineural deafness. Both ACTG1-related non-syndromic A20/A26 deafness and B-WS diagnoses are characterized by hypervariable penetrance in phenotype. Here, we identify a 28th patient worldwide carrying a mutated γ-actin ACTG1 allele, with mildly manifested cerebrofrontofacial B-WS traits, hypervariable penetrance of developmental traits and sensorineural hearing loss. This patient also displays brachycephaly and a complete absence of speech faculty, previously unreported for ACTG1-related B-WS or DFNA20/26 deafness, representing phenotypic expansion. The patient’s exome sequence analyses (ES) confirms a de novo ACTG1 variant previously unlinked to the pathology. Additional microarray analysis uncover no further mutational basis for dual molecular diagnosis in our patient. We conclude that γ-actin c.542C > T, p.Ala181Val is a dominant pathogenic variant, associated with mildly manifested facial and cerebral traits typical of B-WS, hypervariable penetrance of developmental traits and sensorineural deafness. We further posit and present argument and evidence suggesting ACTG1-related non-syndromic DFNA20/A26 deafness is a manifestation of undiagnosed ACTG1-related B-WS. Full article

(This article belongs to the Special Issue Partial Deafness: From Molecular Basis to Therapy)

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