Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations.
| Autor: | Howell N; MitoKor, San Diego, California 92121, USA. howelln@mitokor.com, Miller NR, Mackey DA, Arnold A, Herrnstadt C, Williams IM, Kubacka I |
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| Jazyk: | angličtina |
| Zdroj: | Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society [J Neuroophthalmol] 2002 Dec; Vol. 22 (4), pp. 262-9. |
| DOI: | 10.1097/00041327-200212000-00002 |
| Abstrakt: | 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. |
| Databáze: | MEDLINE |
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