发明名称 |
Diagnostic assay for diabetes mellitus based on mutational burden |
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.
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申请公布号 |
US2002102573(A1) |
申请公布日期 |
2002.08.01 |
申请号 |
US20010893055 |
申请日期 |
2001.06.27 |
申请人 |
DAVIS ROBERT E.;HERRNSTADT CORINNA |
发明人 |
DAVIS ROBERT E.;HERRNSTADT CORINNA |
分类号 |
A61K38/00;C07D219/08;C07K14/47;C12N9/02;C12Q1/68;(IPC1-7):C12Q1/68 |
主分类号 |
A61K38/00 |
代理机构 |
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代理人 |
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主权项 |
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地址 |
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