MITOCHONDRIAL GENE THERAPY

SPID编号：42 这项研究将利用恒河猴开发基因治疗方法 涉及线粒体DNA（mtDNA）的疾病。目标疾病是 慢性进行性外眼肌麻痹与Kearn氏塞尔综合征 综合征，这两种疾病的眼外肌和既由于单一的 线粒体基因突变这些综合征的临床研究正在进行中 在埃默里临床研究中心（CRC）的基因治疗套房。 在耶基斯，来自恒河猴眼外肌的成肌细胞培养物具有 是为了优化胞质杂交体的转移转染后 用β-半乳糖苷酶刺激眼外肌重组细胞可以是 通过β-半乳糖苷酶染色检测。该模型系统具有 提供小肌肉的优点在于， 可以重新引入以改变功能。当最佳条件为 转染和再植入在猴子中定义，同样 将在CRC研究的患者中尝试这种方法。

SPID#: 42 This study will use the rhesus monkey to develop gene therapy approaches for diseases involving mitochondrial DNA (mtDNA). The target diseases are Chronic Progressive External Ophthalmoplegia (CPEO) and the Kearn's Sayre Syndrome, both diseases of extraocular muscles and both due to single gene mutations in mtDNA Clinical studies of these syndromes are underway at the Gene Therapy Suite of the Emory Clinical Research Center (CRC). At Yerkes, myoblast cultures from rhesus monkey extraocular muscles have been established for optimizing cybrid transfer. Following transfection with beta-galactosidase-extraocular muscle. Recombinant cells can be detected by beta-galactosidaseosidase staining. This model system has the advantage of providing a small muscle where sufficient transfected cells can be reintroduced to alter function. When the optimal conditions for transfection and reimplantation are defined in the monkey, the same approach will be attempted in the patients studied in the CRC.