Mitochondrial mutation as a probable causative factor in familial progressive tubulointerstitial nephritis

Hum Genet. 1997 Apr;99(4):484-7. doi: 10.1007/s004390050393.


Renal biopsy of two children and a maternal relative, diagnosed with severe progressive tubulointerstitial nephritis, has shown the presence of distorted mitochondria. Mitochondrial DNA from the blood of these patients was analysed. No major deletions were found, but an A to G mutation was detected in position 5656. It is proposed that this mutation might play a causative role in the renal disease of the patients.

Publication types

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

MeSH terms

  • Adult
  • Child
  • DNA, Mitochondrial
  • Disease Progression
  • Female
  • Humans
  • Male
  • Mitochondria / genetics*
  • Mitochondria / ultrastructure
  • Mutation*
  • Nephritis, Interstitial / genetics*
  • Nephritis, Interstitial / pathology
  • Pedigree


  • DNA, Mitochondrial