Patent · US Expired

Mitochondrial DNA mutations that segregate with late onset diabetes mellitus

US5840493A · kind A · utility

20Cited by
0References
5Claims
0Family size

Assignee

Inventors

Key dates

Filing dateOct 21, 1996
Grant dateNov 24, 1998
Priority date
Expiry dateOct 21, 2016

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 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.

Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.