Lebers hereditary optical neuropathy

Disease Example Leber Hereditary Optic Neuropathy... 

Mutations in mtDNA are responsible for some cases of mitochondrial diseases, such as Leber hereditary optic neuropathy. 

MELAS, Mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes CPEO, chronic progressive external ophthalmoplegia LHON, Leber hereditary optic neuropathy NARP, neurogenic muscle weakness, ataxia, and retinitis pigmentosa NIDDM, non-insulin-dependent diabetes mellitus TER, termination. 

Leber hereditary optic neuropathy (LHON) is the most common mitochondrial disease and the first linked to maternal inheritance through a mutation in the mtDNA. LHON is characterized by bilateral subacute loss of central vision caused by focal degeneration of the retinal ganglion cell layer and of the optic nerve. After initial symptoms, both eyes are usually affected within 6 months. Approximately 50% to 60% of males and only 8% to 32% of females who possess the mtDNA mutation will actually develop this optic neuropathy. Nuclear-encoded factors that affect mtDNA expression, mtDNA products, or mitochondrial metabolism may modify the phenotypic expression of LHON. Genetic coimseling in LHON is complicated in that the amount of mutant mtDNA transmitted by heteroplasmic females cannot be predicted, and testing cannot predict which individuals will develop visual symptoms. ... 

Huoponen K, Puomiia A, Savontaus ML, Mustonen E, Kronqvist E, Nikoskelainen E. Genetic counseling in Leber hereditary optic neuropathy (LHON). Acta Ophthalmol Scand 2002 80 38-43. 

Mackey DA, Oostra RJ, Rosenberg T, Nikoskelainen E, Bronte-Stewart J, Poulton J, et al. Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy Am J Hum Genet 1996 59 481-5. 

Man PYW, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy J Med Genet 2002 39 162-9. 

Muralidharan K. Detection of mitochondidal DNA mutations associated with Leber Hereditary Optic Neuropathy. Methods Molec Biol 2003 217 199-205. 

Newman NJ. From genotype to phenotype in Leber Hereditary Optic Neuropathy stiE more questions than answers. J Neuro-Ophthalmol 2002 22 257-61. 

LHON (Leber hereditary optic neuropathy) Late onset, acute optic atrophy. 90% of European and Asian cases result from mutation in NADH dehydrogenase. 

Howell, N., etcd. (1991) Am. J. Hum. Genet. 49, 939-950. Leber hereditary optic neuropathy identification of the same mitochondrial NDl mutation in six pedigrees. 

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