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Related Experiment Videos

Diabetes with mitochondrial gene tRNALYS mutation

S Suzuki1, Y Hinokio, S Hirai

  • 1Third Department of Internal Medicine, Tohoku University School of Medicine, Sendai, Japan.

Diabetes Care
|December 1, 1994
PubMed
Summary

Mitochondrial tRNA(LYS) mutation is linked to diabetes and impaired insulin secretion. This genetic link suggests a potential cause for diabetes in affected families.

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Area of Science:

  • Genetics
  • Metabolic Disorders
  • Mitochondrial Diseases

Background:

  • Mitochondrial DNA (mtDNA) mutations are implicated in various human diseases.
  • The tRNA(LYS)(8344) mutation in mtDNA has been suggested to be linked to diabetes.
  • Investigating this link requires examining glucose metabolism and insulin function in affected families.

Observation:

  • A Japanese family with diabetes and myoclonic epilepsy with ragged-red fiber disease was studied.
  • Seven members carried the tRNA(LYS) mutation, while seven did not.
  • Maternal transmission of both the mutation and diabetes was observed over three generations.

Findings:

  • Mutated subjects showed significantly reduced insulin secretory capacity, assessed by C-peptide immunoreactivity (CPR) levels.

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  • Five of seven mutated subjects were diabetic, one had impaired glucose tolerance, and all non-mutated members had normal glucose tolerance.
  • Bilateral neurosensory deafness was present in 71.4% of mutated subjects, particularly those with diabetes.

    • Implications:

    • This study provides the first report linking the mitochondrial tRNA(LYS) mutation to diabetes.
    • The findings suggest that a defect in pancreatic beta-cell insulin secretion is a key phenotype of this mutation.
    • This research highlights the role of mitochondrial genetics in metabolic diseases like diabetes.