Marìa Lachgar-Ruiz, Neil J Ingham, Elisa Martelletti, Jing Chen, Elysia James, Clarisse Panganiban, Morag A Lewis, Karen P Steel
{"title":"两种新的小鼠等位基因 Ocm 和 Slc26a5。","authors":"Marìa Lachgar-Ruiz, Neil J Ingham, Elisa Martelletti, Jing Chen, Elysia James, Clarisse Panganiban, Morag A Lewis, Karen P Steel","doi":"10.1016/j.heares.2024.109109","DOIUrl":null,"url":null,"abstract":"<div><p>The genes <em>Ocm</em> (encoding oncomodulin) and <em>Slc26a5</em> (encoding prestin) are expressed strongly in outer hair cells and both are involved in deafness in mice. However, it is not clear if they influence the expression of each other. In this study, we characterise the auditory phenotype resulting from two new mouse alleles, <em>Ocm<sup>tm1e</sup></em> and <em>Slc26a5<sup>tm1Cre</sup></em>. Each mutation leads to absence of detectable mRNA transcribed from the mutant allele, but there was no evidence that oncomodulin regulates expression of prestin or <em>vice versa</em>. The two mutants show distinctive patterns of auditory dysfunction. <em>Ocm<sup>tm1e</sup></em> homozygotes have normal auditory brainstem response thresholds at 4 weeks old followed by progressive hearing loss starting at high frequencies, while heterozygotes show largely normal thresholds until 6 months of age, when signs of worse thresholds are detected. In contrast, <em>Slc26a5<sup>tm1Cre</sup></em> homozygotes have stable but raised thresholds across all frequencies tested, 3 to 42 kHz, at least from 4 to 8 weeks old, while heterozygotes have raised thresholds at high frequencies. Distortion product otoacoustic emissions and cochlear microphonics show deficits similar to auditory brainstem responses in both mutants, suggesting that the origin of hearing impairment is in the outer hair cells. Endocochlear potentials are normal in the two mutants. Scanning electron microscopy revealed normal development of hair cells in <em>Ocm<sup>tm1e</sup></em> homozygotes but scattered outer hair cell loss even at 4 weeks old when thresholds appeared normal, indicating that there is not a direct relationship between numbers of outer hair cells present and auditory thresholds.</p></div>","PeriodicalId":12881,"journal":{"name":"Hearing Research","volume":"452 ","pages":"Article 109109"},"PeriodicalIF":2.5000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S037859552400162X/pdfft?md5=2d9fc5a5cedd3a43b0596064486f2b5e&pid=1-s2.0-S037859552400162X-main.pdf","citationCount":"0","resultStr":"{\"title\":\"Two new mouse alleles of Ocm and Slc26a5\",\"authors\":\"Marìa Lachgar-Ruiz, Neil J Ingham, Elisa Martelletti, Jing Chen, Elysia James, Clarisse Panganiban, Morag A Lewis, Karen P Steel\",\"doi\":\"10.1016/j.heares.2024.109109\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>The genes <em>Ocm</em> (encoding oncomodulin) and <em>Slc26a5</em> (encoding prestin) are expressed strongly in outer hair cells and both are involved in deafness in mice. However, it is not clear if they influence the expression of each other. In this study, we characterise the auditory phenotype resulting from two new mouse alleles, <em>Ocm<sup>tm1e</sup></em> and <em>Slc26a5<sup>tm1Cre</sup></em>. Each mutation leads to absence of detectable mRNA transcribed from the mutant allele, but there was no evidence that oncomodulin regulates expression of prestin or <em>vice versa</em>. The two mutants show distinctive patterns of auditory dysfunction. <em>Ocm<sup>tm1e</sup></em> homozygotes have normal auditory brainstem response thresholds at 4 weeks old followed by progressive hearing loss starting at high frequencies, while heterozygotes show largely normal thresholds until 6 months of age, when signs of worse thresholds are detected. In contrast, <em>Slc26a5<sup>tm1Cre</sup></em> homozygotes have stable but raised thresholds across all frequencies tested, 3 to 42 kHz, at least from 4 to 8 weeks old, while heterozygotes have raised thresholds at high frequencies. Distortion product otoacoustic emissions and cochlear microphonics show deficits similar to auditory brainstem responses in both mutants, suggesting that the origin of hearing impairment is in the outer hair cells. Endocochlear potentials are normal in the two mutants. Scanning electron microscopy revealed normal development of hair cells in <em>Ocm<sup>tm1e</sup></em> homozygotes but scattered outer hair cell loss even at 4 weeks old when thresholds appeared normal, indicating that there is not a direct relationship between numbers of outer hair cells present and auditory thresholds.</p></div>\",\"PeriodicalId\":12881,\"journal\":{\"name\":\"Hearing Research\",\"volume\":\"452 \",\"pages\":\"Article 109109\"},\"PeriodicalIF\":2.5000,\"publicationDate\":\"2024-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.sciencedirect.com/science/article/pii/S037859552400162X/pdfft?md5=2d9fc5a5cedd3a43b0596064486f2b5e&pid=1-s2.0-S037859552400162X-main.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Hearing Research\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S037859552400162X\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Hearing Research","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S037859552400162X","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY","Score":null,"Total":0}
The genes Ocm (encoding oncomodulin) and Slc26a5 (encoding prestin) are expressed strongly in outer hair cells and both are involved in deafness in mice. However, it is not clear if they influence the expression of each other. In this study, we characterise the auditory phenotype resulting from two new mouse alleles, Ocmtm1e and Slc26a5tm1Cre. Each mutation leads to absence of detectable mRNA transcribed from the mutant allele, but there was no evidence that oncomodulin regulates expression of prestin or vice versa. The two mutants show distinctive patterns of auditory dysfunction. Ocmtm1e homozygotes have normal auditory brainstem response thresholds at 4 weeks old followed by progressive hearing loss starting at high frequencies, while heterozygotes show largely normal thresholds until 6 months of age, when signs of worse thresholds are detected. In contrast, Slc26a5tm1Cre homozygotes have stable but raised thresholds across all frequencies tested, 3 to 42 kHz, at least from 4 to 8 weeks old, while heterozygotes have raised thresholds at high frequencies. Distortion product otoacoustic emissions and cochlear microphonics show deficits similar to auditory brainstem responses in both mutants, suggesting that the origin of hearing impairment is in the outer hair cells. Endocochlear potentials are normal in the two mutants. Scanning electron microscopy revealed normal development of hair cells in Ocmtm1e homozygotes but scattered outer hair cell loss even at 4 weeks old when thresholds appeared normal, indicating that there is not a direct relationship between numbers of outer hair cells present and auditory thresholds.
期刊介绍:
The aim of the journal is to provide a forum for papers concerned with basic peripheral and central auditory mechanisms. Emphasis is on experimental and clinical studies, but theoretical and methodological papers will also be considered. The journal publishes original research papers, review and mini- review articles, rapid communications, method/protocol and perspective articles.
Papers submitted should deal with auditory anatomy, physiology, psychophysics, imaging, modeling and behavioural studies in animals and humans, as well as hearing aids and cochlear implants. Papers dealing with the vestibular system are also considered for publication. Papers on comparative aspects of hearing and on effects of drugs and environmental contaminants on hearing function will also be considered. Clinical papers will be accepted when they contribute to the understanding of normal and pathological hearing functions.