References in periodicals archive ?
Sluiter, "Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation," Biochimica et Biophysica Acta--Bioenergetics, vol.
Mouse mtDNA mutant model of Leber hereditary optic neuropathy," Proceedings of the National Academy of Sciences of the United States of America, vol.
Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation.
Mascialino B, Leinonen M, Meier T (2012) Meta-analysis of the prevalence of Leber hereditary optic neuropathy mtDNA mutations in Europe.
Leber hereditary optic neuropathy associated with antiretroviral therapy for human immunodeficiency virus infection.
Since the discovery that Leber hereditary optic neuropathy (LHON) results from mutations in mitochondrial DNA (mtDNA), considerable attention has been focused on this alternative genome and on development of the scientific tools needed to study this remarkable genetic pathway (1, 2).
CONTEXT: Leber hereditary optic neuropathy (LHON) is a maternally inherited loss of central vision related to pathogenic mutations in the mitochondrial genome, which are a necessary but not sufficient condition to develop the disease.
For example, an adenine-to-guanine transversion at position 4136 (A4136G) of the human mitochondrial genome, which leads to the substitution of cysteine for tyrosine in the ND1 subunit of respiratory chain complex I, has been associated with Leber hereditary optic neuropathy (4-6).
The most common point mutations are A3243G, accounting for 80% of patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS); A8344G, which underlies myoclonic epilepsy, ragged red fibers (MERRF); T8993G/C, leading to neuropathy, ataxia, retinitis pigmentosa (NARP); and G11778A, found in >50% of patients with Leber hereditary optic neuropathy (LHON).
Since the molecular basis of the first mitochondrial DNA (mtDNA) disorder, Leber hereditary optic neuropathy (LHON), was established [1], mtDNA mutations have become increasingly more recognized as an important cause of genetic disease.
1) In 1989, the first point mutation in the mtDNA was identified in patients with Leber hereditary optic neuropathy (LHON) [5].