Fam65b function in hearing and deafness

 描述（由申请人提供）：总体目标是阐明调节耳蜗毛细胞静纤毛束形成和维持的机制，以及该过程中导致耳聋的缺陷。本文旨在探讨Fam 65 b突变致聋的正常功能和病理生理变化。基于我们的初步数据，我们假设Fam 65 b是耳蜗毛细胞静纤毛束的结构组织的关键。为了验证我们的假设，我们将：i）继续我们对Fam 65 b（-/-）毛细胞的表征; ii）表征Fam 65 b功能域; iii）寻找Fam 65 b在毛束形态发生中功能性合作的相互作用伴侣。我们的初步数据表明我们的方法的可行性。我们预计，我们的研究将揭示新的见解的分子机制，形状静纤毛，并确定其属性。很有可能，我们的发现可能将几个与肥胖相关的基因连接到一个共同的分子通路中，并为治疗某些形式的疾病的治疗方法的发展提供新的线索。

 DESCRIPTION (provided by applicant): The overall goal is to elucidate the mechanisms that regulate the formation and maintenance of the stereociliary bundle of cochlear hair cells, and the defects in this process that cause deafness. We propose here to investigate the normal functions and the pathophysiological changes associated with Fam65b mutation that cause deafness. Based on our preliminary data, we hypothesize that Fam65b is critical for the structural organization of stereociliary bundle of cochlear hair cells. To test our hypothesis, we will: i) continue our characterization of Fam65b(-/-) hair cells; ii) characterize Fam65b functiona domains; iii) look for interaction partners for Fam65b that functionally cooperate in hair bundle morphogenesis. Our preliminary data show the feasibility of our approach. We anticipate that our studies will shed new insights into the molecular machinery that shapes stereocilia and determines its properties. Quite possibly, our findings may link several deafness-related genes into a common molecular pathway and provide new leads for the development of therapeutic approaches for the treatment of some forms of the disease.