Dec 1, 1992

Mitochondrial DNA analysis in Leber's hereditary optic neuropathy

Ophthalmic Paediatrics and Genetics
P BarboniR Caramazza

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.

Mentioned in this Paper

Optic Atrophies, Hereditary
Genome
DNA, Mitochondrial
Genetic Analysis
Genetic Screening Method
Optic Atrophy, Hereditary, Leber
Thyroid Hormone Plasma Membrane Transport Defect
Genetic Pedigree
Entire Urinary Tract
LHON gene

About this Paper

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