Cellular models for diabetes and other diseases associated with

Details Cellular models for diabetes and other diseases associated with Cellular models for diabetes and other diseases associated with

1998-11-23

2000-11-14

Fredman, Jeffrey

Chemistry: molecular biology and microbiology

Measuring or testing process involving enzymes or...

Involving nucleic acid

435 702, 4351722, 435366, C12Q 168, C12P 2104, C12P 102, C12N 508

Patent

active

061468312

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 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.

REFERENCES:
Chomyn et al., "In Vitro Genetic Transfer of Protein Synthesis and Respiration Defects to Mitochondrial DNA-Less Cells with Myopathy-Patient Mitochondria", Molecular and Cellular Biology, vol. 11(4), pp. 2236-2244, Apr. 1991.
Soejima et al., "Mitochondrial DNA is required for Regulation of Glucose-stimulated Insulin secretion in a Mouse Pancreatic Beta Cell Line, MIN6", The Journal of Biological Chemistry, vol. 271 (42), pp. 26194-26199, Oct. 1996.

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