Article Text

PDF

Pancreatic exocrine dysfunction associated with mitochondrial tRNA(Leu)(UUR) mutation.
  1. H Onishi,
  2. T Hanihara,
  3. N Sugiyama,
  4. C Kawanishi,
  5. E Iseki,
  6. Y Maruyama,
  7. Y Yamada,
  8. K Kosaka,
  9. S Yagishita,
  10. H Sekihara,
  11. S Satoh
  1. Department of Psychiatry, Yokohama City University School of Medicine, Kanagawa, Japan.

    Abstract

    We report on pancreatic exocrine dysfunction in families that have the mitochondrial tRNA(Leu)(UUR) gene mutation. These families exhibited maternally inherited diabetes mellitus (DM) and an A to G substitution at nt 3243 of the mitochondrial tRNA(Leu)(UUR) gene (A3243G mutation). Pancreatic necropsy samples from one proband showed accumulation of degenerated mitochondria in pancreatic acinar cells. Pancreatic exocrine dysfunction was recognised by a functional pancreatic study. This study indicates that exocrine pancreatic dysfunction may be associated with the A3243G mutation.

    Statistics from Altmetric.com

    Request permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.