Mitochondrial DNA mutations that segregate with late onset diabe

Details Mitochondrial DNA mutations that segregate with late onset diabe Mitochondrial DNA mutations that segregate with late onset diabe

1996-10-21

1998-11-24

Jones, W. Gary

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 912, 435 915, 536 2431, 536 2433, C12Q 168, C12P 1934, C07H 2104

Patent

active

058404937

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.

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