Indicators of altered mitochondrial function in predictive methods for determining risk of type 2 diabetes mellitus

    公开(公告)号:US06653094B2

    公开(公告)日:2003-11-25

    申请号:US09924313

    申请日:2001-08-07

    IPC分类号: C12Q132

    摘要: The present invention relates to improved diagnostic methods for early detection of a risk for developing type 2 diabetes mellitus in humans, and screening assays for therapeutic agents useful in the treatment of type 2 diabetes mellitus, by comparing the levels of one or more indicators of altered mitochondrial function. Indicators of altered mitochondrial function include enzymes such as mitochondrial enzymes and ATP biosynthesis factors. Other indicators of altered mitochondrial function include mitochondrial mass, mitochondrial number and mitochondrial DNA content, cellular responses to elevated intracellular calcium and to apoptogens, and free radical production. Methods of treating, and of stratifying, human patients as such methods relate to disclosed indicators of altered mitchondrial function are also provided.

    Diagnostic assay for diabetes mellitus based on mutational burden
    70.
    发明授权
    Diagnostic assay for diabetes mellitus based on mutational burden 失效
    基于突变负担的糖尿病诊断测定

    公开(公告)号:US06291172B1

    公开(公告)日:2001-09-18

    申请号:US09302682

    申请日:1999-04-30

    IPC分类号: C12P1934

    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 of clinical symptoms. Examples of specific mutations in the ATP synthase 8/6 sequence and tRNALys sequence are given. The invention also provides treatments for dysfunctions due to genes for mitochondrial functions 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.

    摘要翻译: 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ATP合酶8/6序列和tRNALys序列中特异性突变的实例。 本发明还提供了由于与糖尿病分离的线粒体功能的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。