Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies
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TL;DR: Optic nerve degeneration in LHON and DOA is therefore due to disturbed mitochondrial function and a predominantly complex I respiratory chain defect has been identified using both in vitro and in vivo biochemical assays.
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About: This article is published in Progress in Retinal and Eye Research. The article was published on 01 Mar 2011. and is currently open access. The article focuses on the topics: Mitochondrial optic neuropathies & Leber's hereditary optic neuropathy.
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Citations
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Opa1 Mutations Induce Mitochondrial Dna Instability and Optic Atrophy Plus Phenotypes
Valerio Carelli,Pascal Reynier,Maria Lucia Valentino,Rosanna Carroccia,Luisa Iommarini,C. La Morgia,Rafael Garesse,Guy Lenaers,Dominique Bonneau,Patrizia Amati-Bonneau +9 more
TL;DR: In this paper, mutations in the OPA1 gene can also be responsible for a syndromic form of DOA associated with sensorineural deafness, ataxia, axonal sensory-motor polyneuropathy, chronic progressive external ophthalmoplegia and mitochondrial myopathy.
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Oxidative stress and mitochondrial dysfunction in glaucoma.
TL;DR: This review will consider the evidence for the presence of oxidative stress in glaucoma; the mechanisms by which oxidative stress may contribute to disease pathogenesis; and also consider therapeutic approaches that target oxidative stress as a means of protecting against optic nerve degeneration.
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References
Biomechanics of the optic nerve head.
TL;DR: Data indicating cellular stretching, rate of stretching and substrate stiffness may be important mechanosensitivity factors in glaucoma is reviewed, and data suggesting peripapillary scleral properties have a strong influence on LC biomechanics is suggested.
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Gene-environment interactions in Leber hereditary optic neuropathy.
Matthew A. Kirkman,Patrick Yu-Wai-Man,Patrick Yu-Wai-Man,Alex Korsten,Miriam Leonhardt,Konstantin Dimitriadis,Ireneaus F. De Coo,Thomas Klopstock,Patrick F. Chinnery +8 more
TL;DR: A strong and consistent association between visual loss and smoking is identified, independent of gender and alcohol intake, leading to a clinical penetrance of 93% in men who smoked and asymptomatic carriers of a LHON mtDNA mutation should be strongly advised not to smoke and to moderate their alcohol intake.
Pathogenesis of nonarteritic anterior ischemic optic neuropathy.
TL;DR: The pathogenesis of idiopathic nonarteritic ischemic optic neuropathy includes features of structurally crowded optic discs, laminar and retrolaminar regions are the most common locations for infarction, and diabetes is the most consistently identified vasculopathic risk factor.
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A mitochondrial dna mutation at nucleotide pair 14459 of the nadh dehydrogenase subunit 6 gene associated with maternally inherited leber hereditary optic neuropathy and dystonia
TL;DR: A five-generation Hispanic family expressing maternally transmitted Leber hereditary optic neuropathy and/or early-onset dystonia associated with bilateral basal ganglia lesions was studied, and a unique mtDNA variant in Native American haplogroup D was found, suggesting that it is the disease-causing mutation.
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