Pancreatic exocrine dysfunction associated with mitochondrial tRNA(Leu)(UUR) mutation

J Med Genet. 1998 Mar;35(3):255-7. doi: 10.1136/jmg.35.3.255.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • 4-Aminobenzoic Acid
  • Adult
  • DNA, Mitochondrial / genetics*
  • Diabetes Mellitus / genetics*
  • Diabetes Mellitus / physiopathology
  • Female
  • Humans
  • MELAS Syndrome / genetics
  • Male
  • Microscopy, Electron
  • Middle Aged
  • Mutation*
  • Pancreas / physiopathology*
  • Pancreas / ultrastructure
  • Pancreatic Diseases / genetics*
  • Pancreatic Diseases / physiopathology
  • Pedigree
  • RNA, Transfer, Leu / genetics*
  • para-Aminobenzoates


  • DNA, Mitochondrial
  • RNA, Transfer, Leu
  • para-Aminobenzoates
  • bentiromide
  • 4-Aminobenzoic Acid