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发明授权
US5840493A Mitochondrial DNA mutations that segregate with late onset diabetes mellitus 失效
与晚发型糖尿病分离的线粒体DNA突变

Mitochondrial DNA mutations that segregate with late onset diabetes mellitus
摘要：
The present invention relates to genetic mutations in mitochondrial genes that segregate with diabetes mellitus. The invention provides methods for detecting such mutations, as a diagnostic for diabetes mellitus, either before or after the onset on clinical symptoms. Examples of specific mutations in the mitochondrial ATP synthase 8/6 gene and tRNA lysine gene are given. The invention also provides treatments for dysfunctions due to mitochondrial genes that segregate with diabetes mellitus. Cybrid cell lines are described which are useful as model systems for the study of the mitochondrial metabolic disorders that are associated with diabetes mellitus, and for identifying therapeutic compounds and treatments for this disease.
摘要（中）：

本发明涉及与糖尿病分离的线粒体基因中的遗传突变。 本发明提供在临床症状发作之前或之后检测这种突变作为糖尿病诊断的方法。 给出了线粒体ATP合成酶8/6基因和tRNA赖氨酸基因中特异突变的实例。 本发明还提供了由于与糖尿病分离的线粒体基因引起的功能障碍的治疗。 描述了杂交细胞系，其可用作研究与糖尿病相关的线粒体代谢紊乱的模型系统，并且用于鉴定该疾病的治疗化合物和治疗。

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