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Last update 23 Jan 2025

TMC1

Last update 23 Jan 2025

Basic Info

Synonyms

DFNA36, DFNB11, DFNB7

+ [4]

Introduction

Probable ion channel required for the normal function of cochlear hair cells.

Drugs associated with TMC1

Cationic lipid-mediated Cas9–sgRNA complex(Harvard University)

Target

TMC1

Mechanism

TMC1 modulators

Active Org.

Harvard University

Originator Org.

Harvard University

Active Indication

Hearing Loss

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Tmc gene therapy(Harvard Medical School)

Target

TMC1

Mechanism

TMC1 agonists

Active Org.

Harvard Medical School

Originator Org.

Harvard Medical School

Active Indication

Hearing Loss

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

TMC1 gene base editing therapy(Broad Institute)

Target

TMC1

Mechanism

TMC1 modulators

Active Org.

The Broad Institute, Inc.

Originator Org.

The Broad Institute, Inc.

Active Indication

Hearing Loss

Inactive Indication-

Drug Highest PhasePreclinical

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

100 Clinical Results associated with TMC1

100 Translational Medicine associated with TMC1

0 Patents (Medical) associated with TMC1

288

Literatures (Medical) associated with TMC1

01 Jan 2025·Human Genetics and Genomics Advances

Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali

Article

Author: Sangaré, Moussa A ; Esoh, Kevin ; Bamba, Salia ; Landouré, Guida ; Traoré, Oumou ; Jonas, Mario ; Bharadwaj, Thashi ; Schrauwen, Isabelle ; Cissé, Cheick A K ; Wonkam, Ambroise ; Fortes-Lima, Cesar A ; Yalcouyé, Abdoulaye ; Maiga, Alassane Dit Baneye ; Aboagye, Elvis Twumasi ; Latanich, Rachel ; Acharya, Anushree ; Leal, Suzanne M ; Guinto, Cheick O ; de Kock, Carmen

Hearing impairment (HI) is the most common neurosensory disorder globally and is reported to be more prevalent in low-income countries. In high-income countries, up to 50% of congenital childhood HI is of genetic origin. However, there are limited genetic data on HI from sub-Saharan African populations. In this study, we investigated the genetic causes of HI in the Malian populations, using whole-exome sequencing. Furthermore, cDNA was transfected into HEK293T cells for localization and expression analysis in a candidate gene. Twenty-four multiplex families were enrolled, 50% (12/24) of which are consanguineous. Clustering methods showed patterns of admixture from non-African sources in some Malian populations. Variants were found in six known nonsyndromic HI (NSHI) genes, four genes that can underlie either syndromic HI (SHI) or NSHI, one SHI gene, and one novel candidate HI gene. Overall, 75% of families (18/24) were solved, and 94.4% (17/18) had variants in known HI genes including MYO15A, CDH23, MYO7A, GJB2, SLC26A4, PJVK, OTOGL, TMC1, CIB2, GAS2, PDCH15, and EYA1. A digenic inheritance (CDH23 and PDCH15) was found in one family. Most variants (59.1%, 13/22) in known HI genes were not previously reported or associated with HI. The UBFD1 candidate HI gene, which was identified in one consanguineous family, is expressed in human inner ear organoids. Cell-based experiments in HEK293T showed that mutants UBFD1 had a lower expression, compared to wild type. We report the profile of known genes and the UBFD1 candidate gene for HI in Mali and emphasize the potential of gene discovery in African populations.

01 Jan 2025·Aging Cell

Morphological phenotyping of the aging cochlea in inbred C57BL/6N and outbred CD1 mouse strains

Article

Author: Raspa, Marcello ; Scavizzi, Ferdinando ; Palladino, Antonio ; Lucini, Carla ; De Felice, Elena ; Attanasio, Chiara ; Scocco, Paola ; Giaquinto, Daniela ; Anastasio, Camilla ; de Girolamo, Paolo ; D'Angelo, Livia ; Peres, Chiara

AbstractMorphological mouse phenotyping plays a pivotal role in the translational setting and even more in the area of auditory research, where mouse is a central model organism due to the evolutionary genetic relationship and morpho‐functional analogies with the human auditory system. However, some results obtained in murine models cannot be translated to humans due to the inadequate description of experimental conditions underlying poor reproducibility. We approach the characterization of the aging process of the mouse cochlea in animals up to 18 months of age belonging to two of the most used outbred (CD1) and inbred (C57BL/6N) strains. Striving to reduce any environmental variable we performed our study compliantly to the ARRIVE guidelines. We integrated instrumental data (auditory brainstem response test), with morphological analyses to correlate functional discrepancies to morphological changes and track the differences in the evolution of sensorineural hearing loss in the two strains. We featured the localization of Gipc3, Myosin VIIa, and TMC1 in hair cells of the Corti organ as well as NF 200 and the density of type I neuron in the spiral ganglion. We outlined age‐related hearing loss (ARHL) in both strains, and a clear drop in the selected marker localization. However, in CD1 we detected a different trend allowing the identification of potential strain‐specific mechanisms, namely an increase in myosin VIIa in 6 months aging mice in comparison to 2 months old animals. Our findings represent an asset to investigate the strain‐dependent physiological trigger of ARHL providing new insights in the translational area.

01 Dec 2024·Clinical Genetics

Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis

Article

Author: Aval, Majid Hadadi ; Saburi, Ehsan ; Afzalzadeh, Mohammad Reza ; Eslahi, Atieh ; Pasdar, Alireza ; Vona, Barbara ; Alerasool, Masoome ; Ardehaie, Reza Mousavi ; Rajati, Mohsen ; Kahaei, Mir Salar ; Nourizadeh, Navid ; Niknezhad, Hamid Tayarani ; Mojarrad, Majid ; Ghasemi, Mohammad Mehdi ; Mojaver, Nasrin Kaseb ; Tale, Mohammad Reza

AbstractHearing loss is one of the most prevalent genetic disorders in humans. Locus and allelic heterogeneity cause fundamental challenges in hearing loss genetic diagnosis and management of patients and their families. This study examined the genetic profile of patients with prelingual hearing loss who were referred to the Genetic Foundation of Khorasan Razavi spanning over a decade. Deleterious variants in GJB2 were evaluated through Sanger sequencing among 745 non‐syndromic hearing loss patients. Furthermore, exome sequencing was applied in 250 patients with negative GJB2 sequencing results and 30 patients with syndromic hearing loss. The findings revealed a relatively low frequency of GJB2 variants among the studied patients. Exome sequencing successfully identified the genetic causes of hearing loss in 70% of the patients. Moreover, variants in 10 genes, namely SLC26A4, MYO15A, TMPRSS3, TMC1, OTOF, CDH23, PJVK, MYO7A, TECTA, and PCDH15, accounted for 66% of the positive exome sequencing findings in this study. At least three prevalent founder alleles in the hearing‐impaired population of eastern Iran were identified. This study emphasizes the efficiency of exome sequencing as a powerful tool for determining the etiology of prelingual hearing loss in the eastern Iranian population.

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TMC1

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