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Howell, N. et al.

Howell, Miller, Mackey, Arnold, Herrnstadt, Williams, Kubacka,

Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations.

OBJECTIVE: To report the clinical and mitochondrial genetic analyses of two families, each of which carries both the 11778 and 14484 Leber hereditary optic neuropathy (LHON) mutations in mitochondrial DNA. METHODS: In addition to detailed clinical histories, the complete sequence of the mitochondrial DNA (mtDNA) from each family was determined. RESULTS: A small Australian LHON family (Vic20) and a family from the United States carry the 11778 and 14484 LHON mutations. In addition to the optic neuropathy, one branch of the Baltimore LHON pedigree had a high incidence of a fatal infantile encephalopathy. In both families, the 14484 LHON mutation was homoplasmic, whereas the 11778 LHON mutation was heteroplasmic. CONCLUSIONS: There are no additional mtDNA sequence changes that explain the encephalopathy in the Baltimore LHON family, and a nuclear gene involvement is an alternative explanation that is supported by the available data. The ophthalmological characteristics and penetrance in the 11778 and 14484 "two-mutation" LHON families are not markedly more severe than those of classic LHON families who carry a single mtDNA mutation.[1]

References

Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations. Howell, N., Miller, N.R., Mackey, D.A., Arnold, A., Herrnstadt, C., Williams, I.M., Kubacka, I. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. (2002) [Pubmed]

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