mtDNA/nDNA ratio in 14484 LHON mitochondrial mutation carriers
نویسندگان
چکیده
منابع مشابه
Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy.
The complete mitochondrial DNA (mtDNA) sequences for 63 Dutch pedigrees with Leber hereditary optic neuropathy (LHON) were determined, 56 of which carried one of the classic LHON mutations at nucleotide (nt) 3460, 11778, or 14484. Analysis of these sequences indicated that there were several instances in which the mtDNAs were either identical or related by descent. The most striking example was...
متن کاملCase report: A Thai patient with Leber's hereditary optic neuropathy linked to mitochondrial DNA 14484 mutation.
A young Thai male presented with bilateral visual loss and disc pallor. The 14484 mutation responsible for Leber's hereditary optic neuropathy (LHON) was identified on blood mitochondrial analysis. His visual loss was more severe than the visual loss described in Caucasian and Japanese patients and showed no improvement. He had no other identifiable mutations related to LHON nor any associated ...
متن کاملLHON: Mitochondrial Mutations and More
Leber's hereditary optic neuropathy (LHON) is a mitochondrial disorder leading to severe visual impairment or even blindness by death of retinal ganglion cells (RGCs). The primary cause of the disease is usually a mutation of the mitochondrial genome (mtDNA) causing a single amino acid exchange in one of the mtDNA-encoded subunits of NADH:ubiquinone oxidoreductase, the first complex of the elec...
متن کاملSegregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy.
PURPOSE To investigate the segregation pattern of the mitochondrial DNA mutation at nucleotide position 3460 responsible for Leber's hereditary optic neuropathy (LHON) and to determine the prevalence of heteroplasmy for the three primary LHON mutations at positions 11778, 3460, and 14484. METHODS Segregation analysis was performed in a cross-sectional study by determining the level of heterop...
متن کاملLeber's 'Plus' in a Korean Patient with 14484/ND6 Mutation
Dear Editor, Leber’s hereditary optic neuropathy (LHON) is an inherited disorder that causes visual loss predominantly in young men. More than 90% of LHON cases are due to one of the following three primary mitochondrial DNA point mutations: G3460A, G11778A, and T14484C.1 While the T14484C mutation is known to show milder pathogenicity and a better outcome than the other mutations,2 here we rep...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2004
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s10038-004-0209-5