Features of mtDNA mutation patterns in European pedigrees and sporadic cases with leber hereditary optic neuropathy
- Univ. of Munich (Germany)
- Univ. of Rogensburgh (Germany)
- Univ. of Bonn (Germany)
- Univ. of Ghent (Belgium)
- Univ. of Brussels (Belgium); and others
Leber hereditary optic neuropathy (LHON) is maternally transmitted and is characterized by bilateral loss of central vision in young adults as a result of optic nerve degeneration. Fifteen transition mutations located in different genes for the mitochondrially encoded subunits of respiratory chain complexes have been associated thus far with the disease. Genetic studies have led to the classification of the pathogenic significance of these different mutations. However, more research is required to determine the causality of the mutations and the penetrance of the disease. The present study compares studies of populations of different ethnic origins, namely European LHON pedigrees and sporadic cases, in order to elucidate the pathogenic mechanisms involved. 21 refs., 2 figs., 1 tab.
- OSTI ID:
- 56851
- Journal Information:
- American Journal of Human Genetics, Vol. 55, Issue 5; Other Information: PBD: Nov 1994
- Country of Publication:
- United States
- Language:
- English
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