Leber's hereditary optic neuropathy: Heteroplasmy is likely to be significant in the expression of LHON in families with the 3460 ND1 mutation

British Journal of Ophthalmology

Volumn 80, Issue 10, 1996, Pages 915-917

  Black, G C M ^a   Morten, K ^b   Laborde, A ^a   Poulton, J ^b  

^a Genetics Laboratory   (United Kingdom)

^b JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; RESTRICTION ENDONUCLEASE;

ARTICLE; CLINICAL ARTICLE; FEMALE; GENE MUTATION; HEREDITARY OPTIC ATROPHY; HUMAN; MALE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0029912105     PISSN: 00071161     EISSN: None     Source Type: Journal    
DOI: 10.1136/bjo.80.10.915     Document Type: Article

References (11)

1. Huoponen K, Vilkki, J, Aula, P, Nikoskelainen, EK, Savontaus M-L. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet 1991;48:1147-53.
2. Howell N, Bindoff LA, McCullough DA, Kubacka I, Poulton J, Mackey D, et al. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet 1991;49:939-50.
3. Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AMS, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988;242: 1427-30.
4. Mackey D, Howell N. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet 1992;51:1218-28.
5. Howell N, Halvorson S, Burns J, McCullough DA, Poulton, J. When does bilateral optic atrophy become Leber hereditary optic neuropathy? Am J Hum Genet 1993;53:959-63.
6. Poulton J, Deadman ME, Bronte-Stewart J, Foulds WS, Gardiner RM. Analysis of mitochondrial DNA in Leber's hereditary optic neuropathy. J Med Genet 1991;28:765-70.
7. (8344) mutation of myoclonus epilepsy and ragged red fibres (MERRF) syndrome. Am J Hum Genet 1992;51:1201-12.
8. Black G, Craig I, Oostra R, Norby S, Rosenberg T, Morten K, et al. Leber's hereditary optic neuropathy: implications of the sex ratio for linkage studies in families with the 3460 ND1 mutation. Eye 1995;9:513-6.
9. Holt IJ, Miller DH, Harding AE. Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy. J Med Genet 1989;26:739-13.
10. Larsson NG, Holme E, Kristiansson B, Oldfors A, Tulinius M. Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome. Paediatr Res 1990;28:131-6.
11. Villki J, Savontaus M-L, Nikoskelainen EK. Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy. Am J Hum Genet 1990;47:95-100.