MOLECULAR BASIS OF OTOPATHOLOGY

描述：两个具体的目标划定：第一，形态， 免疫组织化学和分子遗传学证据表明，麻疹 病毒存在于耳硬化病变中。 副粘病毒已经被 与其它骨质发育不良有关（例如佩吉特病）。 的 研究人员计划在耳颞叶中寻找麻疹病毒RNA， 骨头 申请人可利用 马萨诸塞州眼耳医院（MEEI），包括205套 耳骨颞骨 最近，成骨细胞（OI） 相关基因COL 1A1与耳硬化症有关。 的假设 耳硬化症是OI的一种微小变异， 1型胶原蛋白中类似的功能障碍。 他们手上有220个 来自65个耳硬化症家庭的个体。 研究的第二条线涉及线粒体DNA突变， 老年性耳聋 MEEI档案颞骨收集包含142套 颞骨与各种类型的老年性聋（28感觉，70神经， 44分）。 提供全面的听力学资料。 感音神经性听力损失存在于几乎所有已知的各种听力损失中。 线粒体功能障碍 线粒体突变似乎会累积 随着年龄的增长。 调查人员计划寻找各种各样的点 突变以及从他们的线粒体DNA中获得的连续缺失， 档案收藏。 听力学资料的收集 还将进行已知线粒体突变。

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.