Detection of Low Levels of the Mitochondrial tRNALeu(UUR) 3243A>G Mutation in Blood Derived from Patients with Diabetes

@article{Procaccio2006DetectionOL,
  title={Detection of Low Levels of the Mitochondrial tRNALeu(UUR) 3243A>G Mutation in Blood Derived from Patients with Diabetes},
  author={Dr Vincent Procaccio and Nicolas Neckelmann and V{\'e}ronique Paquis-Flucklinger and Sylvie Bannwarth and Richard A. Jimenez and Antonio Davila and Jason C. Poole and Douglas C. Wallace},
  journal={Molecular Diagnosis & Therapy},
  year={2006},
  volume={10},
  pages={381-389}
}
Background: Mutations in the human mitochondrial genome have been suspected to play a significant role in the etiological development of mitochondrial diabetes. Detection of the 3243A>G mutation in the mitochondrial transfer RNALeu(UUR) gene (MTTL1), especially at low heteroplasmy levels, is highly desirable since it facilitates the diagnosis and subsequent management of the disease. The proportions of mutant mitochondrial DNA (mtDNA) can vary between tissues and are usually significantly… CONTINUE READING

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