Mitochondrial DNA analysis in leber's hereditary optic neuropathy

Piero Barboni, Vilma Mantovani, Pasquale Montagna, Michela Bragliani, Pietro Cortelli, Elio Lugaresi, Piero Puddu, Roberto Caramazza

Research output: Contribution to journalArticlepeer-review


A mitochondrial DNA (mtDNA) mutation at nucleotide 11778 has been reported as the genetic defect associated with Leber's hereditary optic neuropathy (LHON), but some pedigrees failed to reveal this mutation. The authors present the genetic analysis of a large Italian LHON family with three probands and 16 asymptomatic maternal relatives. The 11778 mtDNA mutation was present in this family and absent in 52 Italian healthy controls, confirming the association between this genetic defect and LHON. In addition, they found a variable proportion of mutated and wild-type mtDNA (heteroplasmy) in every maternally related family member, including the probands. Different patterns of heteroplasmy were present in the pedigree and lower levels of wild-type mtDNA seemed to correlate with the disease status. Moreover, the authors evaluated the mitotic segregation of mt genomes in blood, hair and urinary tract epithelia of the three patients and they found a similar level of heteroplasmy in these tissues.

Original languageEnglish
Pages (from-to)219-226
Number of pages8
JournalOphthalmic Genetics
Issue number4
Publication statusPublished - 1992


  • Leber's hereditary optic neuropathy
  • Mitochondrial DNA mutation

ASJC Scopus subject areas

  • Ophthalmology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)


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