Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss

2009 ◽  
Vol 41 (5) ◽  
pp. 609-613 ◽  
Author(s):  
Ángeles Mencía ◽  
Silvia Modamio-Høybjør ◽  
Nick Redshaw ◽  
Matías Morín ◽  
Fernando Mayo-Merino ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Seed Region ◽  
Progressive Hearing Loss

scholarly journals Hearing impairment due to Mir183/96/182 mutations suggests both loss and gain of function effects

2020 ◽  
pp. dmm.047225
Author(s):  
Morag A. Lewis ◽  
Francesca Di Domenico ◽  
Neil J. Ingham ◽  
Haydn M. Prosser ◽  
Karen P. Steel
Keyword(s):  
Hearing Loss ◽  
Hair Cell ◽  
Target Genes ◽  
Normal Hearing ◽  
Null Alleles ◽  
Sensory Cells ◽  
Seed Region ◽  
Inner Hair Cell ◽  
Progressive Hearing Loss ◽  
Altered Expression

The microRNA miR-96 is important for hearing, as point mutations in humans and mice result in dominant progressive hearing loss. Mir96 is expressed in sensory cells along with Mir182 and Mir183, but the roles of these closely-linked microRNAs are as yet unknown. Here we analyse mice carrying null alleles of Mir182, and of Mir183 and Mir96 together to investigate their roles in hearing. We found that Mir183/96 heterozygous mice had normal hearing and homozygotes were completely deaf with abnormal hair cell stereocilia bundles and reduced numbers of inner hair cell synapses at four weeks old. Mir182 knockout mice developed normal hearing then exhibited progressive hearing loss. Our transcriptional analyses revealed significant changes in a range of other genes, but surprisingly there were fewer genes with altered expression in the organ of Corti of Mir183/96 null mice compared with our previous findings in Mir96Dmdo mutants, which have a point mutation in the miR-96 seed region. This suggests the more severe phenotype of Mir96Dmdo mutants compared with Mir183/96 mutants, including progressive hearing loss in Mir96Dmdo heterozygotes, is likely to be mediated by the gain of novel target genes in addition to the loss of its normal targets. We propose three mechanisms of action of mutant miRNAs; loss of targets that are normally completely repressed, loss of targets whose transcription is normally buffered by the miRNA, and gain of novel targets. Any of these mechanisms could lead to a partial loss of a robust cellular identity and consequent dysfunction.

scholarly journals Hearing impairment due to Mir183/96/182 mutations suggests both loss and gain of function effects

2019 ◽  
Author(s):  
Morag A. Lewis ◽  
Francesca Di Domenico ◽  
Neil J. Ingham ◽  
Haydn M. Prosser ◽  
Karen P. Steel
Keyword(s):  
Hearing Loss ◽  
Hair Cell ◽  
Target Genes ◽  
Normal Hearing ◽  
Null Alleles ◽  
Sensory Cells ◽  
Seed Region ◽  
Inner Hair Cell ◽  
Progressive Hearing Loss ◽  
Altered Expression

AbstractThe microRNA miR-96 is important for hearing, as point mutations in humans and mice result in dominant progressive hearing loss. Mir96 is expressed in sensory cells along with Mir182 and Mir183, but the roles of these closely-linked microRNAs are as yet unknown. Here we analyse mice carrying null alleles of Mir182, and of Mir183 and Mir96 together to investigate their roles in hearing. We found that Mir183/96 heterozygous mice had normal hearing and homozygotes were completely deaf with abnormal hair cell stereocilia bundles and reduced numbers of inner hair cell synapses at four weeks old. Mir182 knockout mice developed normal hearing then exhibited progressive hearing loss. Our transcriptional analyses revealed significant changes in a range of other genes, but surprisingly there were fewer genes with altered expression in the organ of Corti of Mir183/96 null mice compared with our previous findings in Mir96Dmdo mutants, which have a point mutation in the miR-96 seed region. This suggests the more severe phenotype of Mir96Dmdo mutants compared with Mir183/96 mutants, including progressive hearing loss in Mir96Dmdo heterozygotes, is likely to be mediated by the gain of novel target genes in addition to the loss of its normal targets. We propose three mechanisms of action of mutant miRNAs; loss of targets that are normally completely repressed, loss of targets whose transcription is normally buffered by the miRNA, and gain of novel targets. Any of these mechanisms could lead to a partial loss of a robust cellular identity and consequent dysfunction.

Hearing Outcome of Stapes Surgery in NIENT, Bangladesh

2020 ◽  
Vol 26 (1) ◽  
pp. 31-36
Author(s):  
Md Zakaria Sarkar ◽  
AHM Ferdows Nur ◽  
Utpal Kumar Dutta ◽  
Muhammad Rafiqul Islam ◽  
Debabrota Roy ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Cross Sectional Study ◽  
Surgical Trauma ◽  
Group 14 ◽  
Progressive Hearing Loss ◽  
Cross Sectional ◽  
Hearing Gain ◽  
Hearing Outcome

Objective: The aim of this study was to evaluate hearing outcome after stapedotomy in patients with Otosclerosis. Methods: This cross sectional study was carried out from July 2017 to January 2019 in National Institute of ENT, Unit V. About 22 patients with Otosclerosis were included in this study. Diagnosis of Otosclerosis was based on the history, medical status with Otoscopy, Tuning fork tests and Audiometric tests. We compiled data on the pre and post operative air-bone gap (ABG) at 0.5, 1, 2 KHZ. The ABG was Calculated using AC and BC thresholds on the same audiogram. Post operative hearing gain was then Calculated from the ABG before the operation minus the ABG of the last follow up examination Results: In this study most of the cases were age group 14-30 years (72.7%), female (54.5%). Most common symptoms was progressive hearing loss, tinnitus (77.8%).The average preoperative hearing loss in this study was (AC) was 48.31±7.68. The average post opt. hearing (AC) at follow up was 28.95±10.30 with an average hearing gain of 15.40±8.53 dB which was significant. The average pre-operative ABG was 28.99 dB ± 8.10. The average post opt. ABG was analyzed at 1 follow up showed ABG 13.18±8.09 dB which was found to be significant. Conclusion: Stapedotomy is an effective surgical procedure for the treatment of otosclerosis which leads to improvement in patient’s quality of life. A favorable hearing outcome can be obtained by the combination of experienced hands with minimal surgical trauma and appropriate surgical technique. Bangladesh J Otorhinolaryngol; April 2020; 26(1): 31-36

scholarly journals An unusual presentation of neurosarcoidosis with progressive hearing loss

2017 ◽  
Vol 28 ◽  
Author(s):  
Abdellah Taous ◽  
Maha Aït Berri ◽  
Mohamed Sinaa ◽  
Issam En-nafaa ◽  
Karim Nadour ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Unusual Presentation ◽  
Progressive Hearing Loss

scholarly journals A Mutation in Synaptojanin 2 Causes Progressive Hearing Loss in the ENU-Mutagenised Mouse Strain Mozart

PLoS ONE ◽  
2011 ◽  
Vol 6 (3) ◽  
pp. e17607 ◽  
Author(s):  
Shehnaaz S. M. Manji ◽  
Louise H. Williams ◽  
Kerry A. Miller ◽  
Lisa M. Ooms ◽  
Melanie Bahlo ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Mouse Strain ◽  
Progressive Hearing Loss

Hearing Screening

2016 ◽  
Keyword(s):  
Hearing Loss ◽  
Social Development ◽  
Hearing Screening ◽  
Routine Screening ◽  
Childhood And Adolescence ◽  
Congenital Hearing Loss ◽  
Speech Impairment ◽  
Progressive Hearing Loss ◽  
Key Points ◽  
Children With Hearing Loss

Key Points The goal of screening is to identify children with hearing loss as early as possible to prevent language and speech impairment and its detriment to educational and social development. Routine screening for newborns is justified, given how common congenital hearing loss is. All children should be tested in the first month after birth, and any child identified as having hearing loss should be receiving intervention before 6 months of age. Routine screening should continue throughout childhood and adolescence to identify patients with acquired or progressive hearing loss.

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