MOLECULAR BASIS OF OTOPATHOLOGY

描述：描述了两个具体目标：第一，形态， 免疫组织化学和分子遗传学证据表明麻疹 病毒存在于耳硬化性病变中。副粘液病毒一直是 与其他骨性发育不良有关(如Paget病)。这个 调查人员计划在耳硬化症的颞区寻找麻疹病毒RNA 骨头。申请者将利用在 马萨诸塞州眼耳医院(MEEI)，包括205套 耳硬化性颞骨。近年来，成骨不全(OI) 相关基因Col 1A1与耳硬化症有关。假说 耳硬化症是OI的一种轻微变异，并具有 1型胶原蛋白也有类似的功能障碍。他们手中有220个样品 来自65个家庭的耳硬化症患者。 第二项调查涉及线粒体DNA突变，与 老年性耳聋。MEEI档案颞骨收藏集包含142套 各种类型的老年性耳聋的颞骨(感觉性耳聋28例，神经性耳聋70例， 44)。我们还提供了全面的听力学资料。 感觉神经性听力损失几乎存在于所有已知的耳聋变种。 线粒体功能障碍。线粒体突变似乎会累积 随着年龄的增长。调查人员计划寻找不同的地点 线粒体DNA的突变和顺序缺失 档案收藏。收集患者的听力学数据 已知的线粒体突变也将被进行。

DESCRIPTION: Two specific aims were delineated: First, morphological, immunohistochemical, and molecular genetic evidence suggest that measles virus is present in otosclerotic lesions. Paramyxoviruses have been implicated in other osseous dysplasias (e.g. Paget's disease). The investigators plan to search for measles virus RNA in otosclerotic temporal bones. The applicant wi draw upon the extensive archival collection at the Massachusetts Eye and Ear Infirmary (MEEI) which includes 205 sets of otosclerotic temporal bones. Recently, the osteogenesis imperfecta (OI) associated gene COL 1A1 has been implicated in otosclerosis. The hypothesis is that otosclerosis represents a minor variant of OI and possesses a similar dysfunction in type 1 collagen. They have in hand samples from 220 individuals from 65 families with otosclerosis. The second line of investigation involves mtDNA mutations associated with presbycusis. The MEEI archival temporal bone collection contains 142 sets of temporal bones with various types of presbycusis (28 sensory, 70 neural, 44 strial). Comprehensive audiological profiles are available. Sensorineural hearing loss is present in virtually all known varieties of mitochondrial dysfunction. Mitochondrial mutations appear to accumulate with advancing age. The investigators plan to search for a variety of point mutations as well as sequential deletions in mtDNA obtained from their archival collection. Collection of audiological data from patients with known mitochondrial mutatio will also be undertaken.