PURPOSE: Model systems for diseases are provided that involve defects in the function of mitochondria, where those defects arise from defects in the genes of those mitochondria. CONSTITUTION: A methods are for detecting such mutations as a diagnostic for late onset diabetes, either before or after the onset of clinical symptoms. More specifically, the present invention provides a method for detecting the presence or risk of developing diabetes mellitus in a human by determining the presence in a biological sample from a human of at least one mitochondrial mutation in an ATP synthase gene or in a tRNA-lysine (tRNALYs) gene that correlates with the presence of or risk of developing diabetes mellitus. The invention further provides, but need not be limited to, particular nucleotide positions within ATP synthase gene sequences and in tRNALYs gene sequences where mutations that are silent mutations, missense mutations, or combinations thereof, may occur. In one embodiment, the invention provides a method for detecting the presence or risk of developing diabetes by determining the presence in a biological sample of at least one mitochondrial mutation that correlates with the presence or risk of developing diabetes mellitus. In various embodiments, the mutation is determined by hybridization with oligonucleotide probes, by ligation reaction, by polymerase chain reaction and variations thereof, or by single nucleotide primer-guided extension.
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