Renal amino acid transport in adults with oxidative phosphorylation diseases

Kidney Int. 1995 Apr;47(4):1101-7. doi: 10.1038/ki.1995.157.


The clinical manifestations of mitochondrial DNA (mtDNA) mutations depend on a variety of factors including ratios of normal to abnormal mtDNA and tissue-specific differences in ATP production by oxidative phosphorylation (OXPHOS). In order to investigate the effects of OXPHOS defects on renal tubule function, we characterized sodium-coupled transport processes in six individuals with OXPHOS diseases. Pathogenic mtDNA mutations were identified in five of these individuals. Sodium coupled transport processes were evaluated by determining fractional excretions of amino acids, glucose, lactate, urate, and phosphate in patients and controls. Four of the six individuals had high fractional excretions of neutral amino acids, indicating abnormal renal tubule reabsorbtion of these amino acids. Abnormalities in fractional excretions of lactate, glucose, urate, and phosphate were less pronounced. These results demonstrate that sodium-coupled transport processes in the kidney are sensitive to OXPHOS impairment. When abnormalities in these processes are encountered, an OXPHOS disease should be included in the differential diagnosis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenosine Triphosphate / biosynthesis
  • Adult
  • Aged
  • Amino Acids / genetics
  • Amino Acids / metabolism*
  • Base Sequence
  • Biopsy
  • Blotting, Southern
  • DNA, Mitochondrial / genetics*
  • DNA, Mitochondrial / metabolism
  • Female
  • Humans
  • Ion Transport
  • Kearns-Sayre Syndrome / genetics
  • Kearns-Sayre Syndrome / metabolism*
  • Kidney Tubules, Proximal / metabolism*
  • Kidney Tubules, Proximal / physiopathology
  • MERRF Syndrome / genetics
  • MERRF Syndrome / metabolism*
  • Male
  • Middle Aged
  • Mitochondrial Myopathies / genetics
  • Mitochondrial Myopathies / metabolism*
  • Molecular Sequence Data
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Mutation
  • Oxidative Phosphorylation*
  • Sodium / metabolism


  • Amino Acids
  • DNA, Mitochondrial
  • Adenosine Triphosphate
  • Sodium