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A Collaborative Search for New Genes for Non-Syndromic Deafness

ABSTRACT: A Collaborative Search for New Genes for Non-Syndromic Deafness

PROVIDER: PRJNA1131023 | ENA |

REPOSITORIES: ENA

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A Collaborative Search for New Genes for Non-Syndromic Deafness

Project description:A Collaborative Search for New Genes for Non-Syndromic Deafness

| PRJNA1131022 | ENA

Single cell RNA-seq of cochlear tissues from Tmie+/- and Tmie-/- mice, a model for recessive non-syndromic deafness model 6.

Project description:Deafness is the most common form of sensory impairment in humans and frequently caused by defects in hair cells of the inner ear. Here we demonstrate that in a mouse model for recessive non-syndromic deafness (DFNB6), inactivation of Tmie in hair cells disrupts gene expression in the neurons that innervate them. This includes genes regulating axonal pathfinding and synaptogenesis, two processes that are disrupted in the inner ear of the mutant mice. Similar defects are observed in mouse models for deafness caused by mutations in other genes with primary functions in hair cells. Gene therapy targeting hair cells restores hearing and inner ear circuitry in DFNB6 model mice. We conclude that hair cell function is crucial for the establishment of peripheral auditory circuitry. Treatment modalities for deafness thus need to consider restoration of the function of both hair cells and neurons, even when the primary defect occurs in hair cells.

2024-11-10 | GSE281207 | GEO

GJB2 c.109G>A mutation causes hereditary non-syndromic deafness through the mitochondrial apoptosis pathway

Project description:To further investigate the regulatory pathway of GJB2 c.109G>A mutants in hereditary non-syndromic deafness, we performed a transcriptomic sequencing analysis. Differentially expressed genes between the Ctrl and MO groups were screened based on FDR-p<0.05 and |log2 Fold Change|>0.5. The results showed that 243 differentially expressed genes were screened in the Ctrl and MO groups, with 63 genes downregulated and 180 genes upregulated. These differentially expressed genes were visualized by drawing heatmaps and volcano plots. GO analysis was performed on the differentially expressed genes. GO analysis results indicated that the main enrichment in the Biological Process category was secondary alcohol metabolic process, release of cytochrome c from mitochondria, and defense response to other organism .

2026-02-18 | GSE306402 | GEO

GJB2 c.109G>A mutation causes hereditary non-syndromic deafness through the mitochondrial apoptosis pathway

Project description:GJB2 c.109G>A mutation causes hereditary non-syndromic deafness through the mitochondrial apoptosis pathway

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MicroRNA and mRNA integrated transcriptional analysis in a Cx30-/- mouse model of non-syndromic hearing loss and deafness [miRNA]

Project description:The GJB6 gene is located just 35 kb telomeric to GJB2 in the so-called nonsyndromic hearing loss and deafness locus 1 (DFNB1). Knock out mouse models confirmed that inner ear expression of their protein products, connexin 30 (Cx30) and connexin 26 (Cx26), is crucial for hearing acquisition and normal development of the organ of Corti, however the coordinated regulation mechanism of Cx26 and Cx30 expression in the cochlea remains unclear. To investigate the mechanism underlying the etiopathogenesis of DFNB1, we used a microRNA (miRNA) and mRNA integrated expression profiling analysis on Cx30 -/- mice, which represent a model for humans in which large deletions in the DFNB1 locus lead to the down-regulation of both connexins and profound deafness.

2020-12-29 | GSE151368 | GEO

MicroRNA and mRNA integrated transcriptional analysis in a Cx30-/- mouse model of non-syndromic hearing loss and deafness [mRNA]

2020-12-29 | GSE151367 | GEO

Expression profiling in lymphoblastoid cell lines of family with maternally inherited non-syndromic hearing loss.

Project description:We analyzed samples from fourteen deaf individuals (Affected 1 through 14), fifteen hearing maternally related family members (Unaffected 1-15), six marry-in controls (Controls 1-6) from extended pedigree from Arab-Israeli village, and nine individuals from another Arab-Israeli village (Controls 7-15). All affected and unaffected maternally-related individuals carry homoplasmic mutation in the 12S rRNA gene of the mitochondrial DNA, associated with both non-syndromic and aminoglycosides-induced deafness. Keywords: Comparison of genome-wide expression in cell lines of maternally-related individuals with mitochondrial mutation and controls carrying wild-type mitochondrial chromosome.

2009-06-01 | GSE9822 | GEO

Whole-exome analyses of congenital non-syndromic deafness to understand a high-resolution genomic architecture in Indian population

Project description:Whole-exome analyses of congenital non-syndromic deafness to understand a high-resolution genomic architecture in Indian population

| PRJEB55490 | ENA

MicroRNA and mRNA integrated transcriptional analysis in a Cx30-/- mouse model of non-syndromic hearing loss and deafness

Project description:MicroRNA and mRNA integrated transcriptional analysis in a Cx30-/- mouse model of non-syndromic hearing loss and deafness

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The pathogenesis of common Gjb2 mutation associated with human hereditary deafness in mice

Project description:Mutations in GJB2 (Gap junction protein beta 2) are the most common genetic cause of non-syndromic hereditary deafness in humans, especially the 35delG and 235delC mutations. Owing to the homozygous-lethal of Gjb2 mutation in mice, there are currently no perfect mouse models carrying Gjb2 mutation to mimic human hereditary deafness and unveil the pathogenesis. Here, we first constructed heterozygous mutant mice, Gjb2+/35delG and Gjb2+/235delC, through androgenic haploid embryonic stem cells (AG-haESCs) mediated semi-cloning technology, which showed normal hearing function at P28. Furthermore, a homozygous mutant mouse model, Gjb235delG/35delG, was generated via enhanced tetraploid embryo complementation, which exhibited profound hearing loss like human patients at P14. Mechanism analysis showed that Gjb2 35delG disrupts the formation of intercellular gap junction channel and tunnel of Corti, and hair cell mechanotransduction, rather than the development of hair cells. Collectively, our study provides ideal mouse models for understanding the pathogenic mechanism and opens up a new avenue for investigating the treatment for DFNB1A-related hereditary deafness.

2023-05-12 | GSE215106 | GEO

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