两种新的小鼠等位基因 Ocm 和 Slc26a5。

IF 2.5 2区 医学 Q1 AUDIOLOGY & SPEECH-LANGUAGE PATHOLOGY Hearing Research Pub Date : 2024-09-01 DOI:10.1016/j.heares.2024.109109
Marìa Lachgar-Ruiz, Neil J Ingham, Elisa Martelletti, Jing Chen, Elysia James, Clarisse Panganiban, Morag A Lewis, Karen P Steel
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引用次数: 0

摘要

Ocm(编码oncomodulin)和Slc26a5(编码prestin)基因在外毛细胞中强烈表达,两者都与小鼠耳聋有关。然而,目前还不清楚它们是否会影响彼此的表达。在这项研究中,我们描述了两种新的小鼠等位基因 Ocmtm1e 和 Slc26a5tm1Cre 所导致的听觉表型。每种突变都会导致从突变等位基因转录的 mRNA 缺失,但没有证据表明 oncomodulin 可调节 prestin 的表达,反之亦然。这两种突变体表现出不同的听觉功能障碍模式。Ocmtm1e同源突变体在4周大时听觉脑干反应阈值正常,随后从高频开始出现渐进性听力损失,而杂合突变体在6个月大时听觉脑干反应阈值基本正常,此时会发现听觉脑干反应阈值有恶化的迹象。与此相反,Slc26a5tm1Cre同基因杂合子至少在4至8周大时,在3至42千赫的所有频率测试中,阈值都稳定但升高,而杂合子在高频时阈值升高。在这两种突变体中,畸变产物耳声发射和耳蜗微音显示出与听觉脑干反应相似的缺陷,这表明听力损伤的根源在于外毛细胞。两个突变体的耳蜗内电位正常。扫描电子显微镜显示,Ocmtm1e同源突变体的毛细胞发育正常,但即使在阈值看起来正常的4周大时,也有零星的外毛细胞缺失,这表明外毛细胞的数量与听觉阈值之间没有直接关系。
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Two new mouse alleles of Ocm and Slc26a5

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.

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来源期刊
Hearing Research
Hearing Research 医学-耳鼻喉科学
CiteScore
5.30
自引率
14.30%
发文量
163
审稿时长
75 days
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.
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