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1546 e1, This study examined 188 individuals with bilateral optic atrophy for OPA1 and OPA3 nuclear gene mutations, as well as common mitochondrial DNA gene mutations that cause LHON. Twenty-seven different OPA1 mutations were detected, establishing OPA1 as the most common genetic cause of suspected DOA. OPA3 mutations were much less common in this population
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Yu-Wai-Man P, Griffiths PG, Burke A, et al. The prevalence and natural history of dominant optic atrophy due to OPA1 mutations. Ophthalmology 2010;117:1538-1546, 1546 e1. This study examined 188 individuals with bilateral optic atrophy for OPA1 and OPA3 nuclear gene mutations, as well as common mitochondrial DNA gene mutations that cause LHON. Twenty-seven different OPA1 mutations were detected, establishing OPA1 as the most common genetic cause of suspected DOA. OPA3 mutations were much less common in this population.
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Chinnery, P.E.A.1
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25
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Leber hereditary optic neuropathy gene therapy clinical trial recruitment: Year 1
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Twenty-five individuals affected with LHON and 21 G11778A mitochondrial DNA mutation carriers underwent neuro-ophthalmologic testing, including evaluation of retinal nerve fiber layer thickness, to determine particular characteristics to prioritize individuals for potential future gene therapy. Individuals with only mild damage to the retinal nerve fiber layer and low amplitude pattern electroretinogram may be good candidates for LHON gene therapy
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Lam B, Feuer W, Abukhalil F, et al. Leber hereditary optic neuropathy gene therapy clinical trial recruitment: year 1. Arch Ophthalmol 2010;128:1129-1135. Twenty-five individuals affected with LHON and 21 G11778A mitochondrial DNA mutation carriers underwent neuro-ophthalmologic testing, including evaluation of retinal nerve fiber layer thickness, to determine particular characteristics to prioritize individuals for potential future gene therapy. Individuals with only mild damage to the retinal nerve fiber layer and low amplitude pattern electroretinogram may be good candidates for LHON gene therapy.
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Arch Ophthalmol
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This retrospective study examined 59 individuals with primary mitochondrial disease to delineate the frequency of various ophthalmologic findings within the probands. Ocular disorders were detected in 81% of the cohort, stressing the importance of regular ophthalmologic screening in individuals with suspected or verified mitochondrial disease
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Gronlund MA, Honarvar AK, Andersson S, et al. Ophthalmological findings in children and young adults with genetically verified mitochondrial disease. Br J ophthalmol 2010;94:121-127. This retrospective study examined 59 individuals with primary mitochondrial disease to delineate the frequency of various ophthalmologic findings within the probands. Ocular disorders were detected in 81% of the cohort, stressing the importance of regular ophthalmologic screening in individuals with suspected or verified mitochondrial disease.
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Br J Ophthalmol
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This study examined the effects of MMP2 inhibition in diabetic mice, clarifying MMP2 as playing a significant role in cellular apoptosis, as well as elaborating the potential therapeutic role for MMP2 inhibitors in diabetic retinopathy
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Mohammad G, Kowluru RA. Matrix metalloproteinase-2 in the development of diabetic retinopathy and mitochondrial dysfunction. Lab Invest 2010;90:1365-1372. This study examined the effects of MMP2 inhibition in diabetic mice, clarifying MMP2 as playing a significant role in cellular apoptosis, as well as elaborating the potential therapeutic role for MMP2 inhibitors in diabetic retinopathy.
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This study confirmed the deleterious effects of oxidative stress on retinal cells, highlighting a possible therapeutic role of increasing the antioxidant scavenging enzyme, MnSOD
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SS31, a mitochondrial antioxidant peptide, was analyzed for its effect on human retinal endothelial cells exposed to high-glucose environments, as seen in diabetic retinopathy. Cells treated with SS31 were found to have significantly less oxidative stress and lower levels of cytochrome c
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Li J, Chen X, Xiao W, et al. Mitochondria-targeted antioxidant peptide SS31 attenuates high glucose-induced injury on human retinal endothelial cells. Biochem Biophys Res Commun 2010;404:349-356. SS31, a mitochondrial antioxidant peptide, was analyzed for its effect on human retinal endothelial cells exposed to high-glucose environments, as seen in diabetic retinopathy. Cells treated with SS31 were found to have significantly less oxidative stress and lower levels of cytochrome c.
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Characterization of retinal and blood mitochondrial DNA from age-related macular degeneration patients
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authors examined the mtDNA in retina and blood from AMD patients and normal controls. They identified higher levels of large mitochondrial DNA genome deletions and rearrangements in the retinas of the AMD population
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Kenney MC, Atiliano SR, Boyer D, et al. Characterization of retinal and blood mitochondrial DNA from age-related macular degeneration patients. Invest Ophthalmol Vis Sci 2010;51:4289-4297. The authors examined the mtDNA in retina and blood from AMD patients and normal controls. They identified higher levels of large mitochondrial DNA genome deletions and rearrangements in the retinas of the AMD population.
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This study examined the protective effects on retinal ganglion cells of overexpression of OPA1. Cells transfected with OPA1 showed longer survival and decreased rates of apoptosis
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Ju WK, Kim KY, Duong-Polk KX, et al. Increased optic atrophy type 1 expression protects retinal ganglion cells in a mouse model of glaucoma. Mol Vis 2010;16:1331-1342. This study examined the protective effects on retinal ganglion cells of overexpression of OPA1. Cells transfected with OPA1 showed longer survival and decreased rates of apoptosis.
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