title: Mitochondrial mutation as a probable causative factor in familial progressive tubulointerstitial nephritis.
abstract: 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.
authors.affiliation: Institute of Biochemistry of the Biological Research Center, Szeged, Hungary.
authors.forename: G
authors.initials: G
authors.lastname: Zsurka
authors.forename: J
authors.initials: J
authors.lastname: Ormos
authors.forename: B
authors.initials: B
authors.lastname: Iványi
authors.forename: S
authors.initials: S
authors.lastname: Túri
authors.forename: E
authors.initials: E
authors.lastname: Endreffy
authors.forename: M
authors.initials: M
authors.lastname: Magyari
authors.forename: S
authors.initials: S
authors.lastname: Sonkodi
authors.forename: P
authors.initials: P
authors.lastname: Venetianer
mesh_terms: D000328:Adult; D002648:Child; D004272:DNA, Mitochondrial; D018450:Disease Progression; D005260:Female; D006801:Humans; D008297:Male; D008928:Mitochondria / Q000235:genetics* / Q000648:ultrastructure; D009154:Mutation; D009395:Nephritis, Interstitial / Q000235:genetics* / Q000473:pathology; D010375:Pedigree
chemical_list: D004272:DNA, Mitochondrial