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

Gábor Zsurka, Jenö Ormos, B. Iványi, S. Túri, E. Endreffy, Márta Magyari, S. Sonkodi, Pál Venetianer

Research output: Contribution to journalArticle

15 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)484-487
Number of pages4
JournalHuman Genetics
Volume99
Issue number4
DOIs
Publication statusPublished - Apr 1997

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Interstitial Nephritis
Kidney
Mutation
Mitochondrial DNA
Mitochondria
Mothers
Biopsy

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Mitochondrial mutation as a probable causative factor in familial progressive tubulointerstitial nephritis. / Zsurka, Gábor; Ormos, Jenö; Iványi, B.; Túri, S.; Endreffy, E.; Magyari, Márta; Sonkodi, S.; Venetianer, Pál.

In: Human Genetics, Vol. 99, No. 4, 04.1997, p. 484-487.

Research output: Contribution to journalArticle

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