CLINICAL RESEARCH CENTER FOR NEUROMUSCULAR DISEASES

这个临床研究中心，现在已经21岁了，一直在关注 患有人类神经肌肉疾病。董事会的目标是 阐明这些疾病的病因和发病机制，依次 要么为目前无法治愈的疾病设计合理的治疗方法 条件，或提供信息，可以指导健全的基因 心理咨询。在不同的时期，重点发生了变化 格兰特，但我们关注的是人类病人。海流 计划包括两个主题：线粒体 脑肌病和自身免疫性运动神经病。中心 调查人员一直活跃在这两个领域，并一直在 合作了很多年。这是三个项目。项目1 Bonilla和Schon将研究肌肉和大脑中mtDNA的缺失， 使用形态和遗传相结合的方法，包括 新的基于聚合酶链式反应的方法。项目2金和米兰达将 研究线粒体DNA突变的基因型-表型关系 新的，有丝分裂后组织培养系统。项目3拉托夫，李， 海斯将研究暴露于 空肠弯曲杆菌可以激活特定的记忆B细胞，这种细胞 识别细菌的复杂低聚糖，导致 利用转基因小鼠生产致病性自身抗体 技术作为一个关键组成部分。临床核心迪莫罗和 罗兰德将提供指导、管理、外部 会诊、临床协调、共享技术服务 这是整个项目的一部分。一如既往，我们鼓励 基础和临床科学家之间的合作。

This Clinical Research Center, now in Year 21, has been concerned with human neuromuscular diseases. The board objective is to elucidate the etiology and pathogenesis of these disorders, in order to either devise rational treatments for presently untreatable conditions or provide information that could guide sound genetic counseling. The emphasis has shifted in different periods of the grant, but we have concentrated on human patients. The current program includes two main themes: mitochondrial encephalomyopathies and autoimmune motor neuropathies. Center investigators have been active in both fields and have been collaborating for many years. These are three projects. Project 1 Bonilla and Schon will study mtDNA deletions in muscle and brain, using combined morphological and genetic approaches, including novel PCR-based methodologies. Project 2 King and Miranda will study genotype-phenotype relationships of mtDNA mutations in a novel, post-mitotic tissue culture system. Project 3 Latov, Lee, and Hays will study mechanisms by which exposure to Campylobacter jejuni may activate specific 'memory' B cells which recognize the bacterial complex oligosaccharides, resulting in production of pathogenic autoantibodies, using transgenic mouse technology as a key component. A clinical core DiMauro and Rowland will provide direction, administration, external consultation, clinical coordination, and share technical service to the project as a whole. As always, we have encouraged collaboration between the basic and clinical scientists.