Diagnostic assay for diabetes mellitus based on mutational burden
US6291172A · kind A · utility
Assignee
Inventors
Key dates
| Filing date | Apr 30, 1999 |
| Grant date | Sep 18, 2001 |
| Priority date | — |
| Expiry date | Apr 30, 2019 |
Classification
- Technology area (CPC C)Chemistry; Metallurgy
- CPC primaryC12Q2600/156
- WIPO fieldPharmaceuticals
- WIPO sectorChemistry
Abstract
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 tRNA.sup.Lys 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.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.