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 journalArticle

4 Citations (Scopus)

Abstract

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
Volume13
Issue number4
DOIs
Publication statusPublished - 1992

Fingerprint

Leber's Hereditary Optic Atrophy
Mitochondrial DNA
Pedigree
Mutation
Urothelium
Hair
Nucleotides
Mothers
Genome

Keywords

  • Leber's hereditary optic neuropathy
  • Mitochondrial DNA mutation

ASJC Scopus subject areas

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

Cite this

Barboni, P., Mantovani, V., Montagna, P., Bragliani, M., Cortelli, P., Lugaresi, E., ... Caramazza, R. (1992). Mitochondrial DNA analysis in leber's hereditary optic neuropathy. Ophthalmic Genetics, 13(4), 219-226. https://doi.org/10.3109/13816819209105170

Mitochondrial DNA analysis in leber's hereditary optic neuropathy. / Barboni, Piero; Mantovani, Vilma; Montagna, Pasquale; Bragliani, Michela; Cortelli, Pietro; Lugaresi, Elio; Puddu, Piero; Caramazza, Roberto.

In: Ophthalmic Genetics, Vol. 13, No. 4, 1992, p. 219-226.

Research output: Contribution to journalArticle

Barboni, P, Mantovani, V, Montagna, P, Bragliani, M, Cortelli, P, Lugaresi, E, Puddu, P & Caramazza, R 1992, 'Mitochondrial DNA analysis in leber's hereditary optic neuropathy', Ophthalmic Genetics, vol. 13, no. 4, pp. 219-226. https://doi.org/10.3109/13816819209105170
Barboni, Piero ; Mantovani, Vilma ; Montagna, Pasquale ; Bragliani, Michela ; Cortelli, Pietro ; Lugaresi, Elio ; Puddu, Piero ; Caramazza, Roberto. / Mitochondrial DNA analysis in leber's hereditary optic neuropathy. In: Ophthalmic Genetics. 1992 ; Vol. 13, No. 4. pp. 219-226.
@article{c9489e839c634332804c433df4cedff8,
title = "Mitochondrial DNA analysis in leber's hereditary optic neuropathy",
abstract = "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.",
keywords = "Leber's hereditary optic neuropathy, Mitochondrial DNA mutation",
author = "Piero Barboni and Vilma Mantovani and Pasquale Montagna and Michela Bragliani and Pietro Cortelli and Elio Lugaresi and Piero Puddu and Roberto Caramazza",
year = "1992",
doi = "10.3109/13816819209105170",
language = "English",
volume = "13",
pages = "219--226",
journal = "Ophthalmic Genetics",
issn = "0167-6784",
publisher = "Informa Healthcare",
number = "4",

}

TY - JOUR

T1 - Mitochondrial DNA analysis in leber's hereditary optic neuropathy

AU - Barboni, Piero

AU - Mantovani, Vilma

AU - Montagna, Pasquale

AU - Bragliani, Michela

AU - Cortelli, Pietro

AU - Lugaresi, Elio

AU - Puddu, Piero

AU - Caramazza, Roberto

PY - 1992

Y1 - 1992

N2 - 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.

AB - 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.

KW - Leber's hereditary optic neuropathy

KW - Mitochondrial DNA mutation

UR - http://www.scopus.com/inward/record.url?scp=84907115453&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84907115453&partnerID=8YFLogxK

U2 - 10.3109/13816819209105170

DO - 10.3109/13816819209105170

M3 - Article

AN - SCOPUS:84907115453

VL - 13

SP - 219

EP - 226

JO - Ophthalmic Genetics

JF - Ophthalmic Genetics

SN - 0167-6784

IS - 4

ER -