CCDC154 Mutant Caused Abnormal Remodeling of the Otic Capsule and Hearing Loss in Mice.
CCDC154 Mutant Caused Abnormal Remodeling of the Otic Capsule and Hearing Loss in Mice.
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CCDC154突变导致小鼠耳囊重塑异常和听力损失
DOI：
10.3389/fcell.2021.637011
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发表时间：
2021
影响因子：
5.5
通讯作者：
Sun Y
中科院分区：
文献类型：
--
作者：
Xu K;Bai X;Chen S;Xie L;Qiu Y;Li H;Sun Y
石骨症是一种罕见的遗传性骨病，其特征是破骨细胞功能障碍，导致骨吸收和重塑受损，最终导致骨量和骨密度增加。听力损失是石骨症最常见的并发症之一。但其病因和发病机制仍需进一步探讨。在本研究中，我们发现一个新的骨硬化症相关基因CCDC 154（coiled-coil domain-containing 154）基因的自发突变导致小鼠先天性耳聋。纯合子突变小鼠表现出中度至重度听力损失，而杂合子或野生型（WT）同窝小鼠表现出正常的听力。病理学观察发现，纯合子突变小鼠耳囊骨改建异常，表现为血管增多和多发性空洞性病变。在纯合子突变小鼠中观察到Corti器官的正常结构和没有实质性的毛细胞或螺旋神经节神经元损失。我们的研究结果表明，骨硬化症相关基因CCDC 154的突变可以导致综合征型遗传性耳聋小鼠。CDCC 154基因突变引起的听小骨和耳囊骨重建障碍与听力损失有关。
Osteopetrosis is a rare inherited bone disease characterized by dysfunction of osteoclasts, causing impaired bone resorption and remodeling, which ultimately leads to increased bone mass and density. Hearing loss is one of the most common complications of osteopetrosis. However, the etiology and pathogenesis of auditory damage still need to be explored. In this study, we found that a spontaneous mutation of coiled-coil domain-containing 154 (CCDC154) gene, a new osteopetrosis-related gene, induced congenital deafness in mice. Homozygous mutant mice showed moderate to severe hearing loss, while heterozygous or wild-type (WT) littermates displayed normal hearing. Pathological observation showed that abnormal bony remodeling of the otic capsule, characterized by increased vascularization and multiple cavitary lesions, was found in homozygous mutant mice. Normal structure of the organ of Corti and no substantial hair cell or spiral ganglion neuron loss was observed in homozygous mutant mice. Our results indicate that mutation of the osteopetrosis-related gene CCDC154 can induce syndromic hereditary deafness in mice. Bony remodeling disorders of the auditory ossicles and otic capsule are involved in the hearing loss caused by CDCC154 mutation.
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影响因子：
1.9
作者：
Lu X;Rios HF;Jiang B;Xing L;Kadlcek R;Greenfield EM;Luo G;Feng JQ
通讯作者：
Feng JQ
slc4a2b 基因是斑马鱼毛细胞发育所必需的
DOI：
10.18632/aging.103840
发表时间：
2020-10-12
期刊：
Aging
影响因子：
--
作者：
Qian F;Wang X;Yin Z;Xie G;Yuan H;Liu D;Chai R
通讯作者：
Chai R
影响因子：
6.2
作者：
Aharinejad, S;Grossschmidt, K;Marks, SC
通讯作者：
Marks, SC
DOI：
10.1073/pnas.202332999
发表时间：
2002-10-29
影响因子：
11.1
作者：
Van Wesenbeeck, L;Odgren, PR;Marks, SC
通讯作者：
Marks, SC
影响因子：
1.7
作者：
Quesnel, Alicia M.;Ishai, Reuven;McKenna, Michael J.
通讯作者：
McKenna, Michael J.