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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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.
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References
OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes
Patrizia Amati-Bonneau,Maria Lucia Valentino,Pascal Reynier,María Esther Gallardo,Belén Bornstein,Anne Boissiere,Yolanda Campos,Henry Rivera,Jesús González de la Aleja,Rosanna Carroccia,Luisa Iommarini,Pierre Labauge,Dominique Figarella-Branger,Pascale Marcorelles,Alain Furby,Katell Beauvais,Franck Letournel,Rocco Liguori,Chiara La Morgia,Pasquale Montagna,Maria Liguori,Claudia Zanna,Michela Rugolo,Andrea Cossarizza,Bernd Wissinger,Christophe Verny,Robert Schwarzenbacher,Miguel A. Martín,Joaquiotan Arenas,Carmen Ayuso,Rafael Garesse,Guy Lenaers,Dominique Bonneau,Valerio Carelli +33 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.
The epidemiology of Leber hereditary optic neuropathy in the North East of England.
Patrick Yu Wai Man,Philip G. Griffiths,D. T. Brown,Neil Howell,Douglass M. Turnbull,Patrick F. Chinnery +5 more
TL;DR: The first population-based clinical and molecular genetic study of Leber hereditary optic neuropathy in a population of 2,173,800 individuals in the North East of England indicates that LHON is not rare but has a population prevalence similar to autosomally inherited neurological disorders.
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Treatment for mitochondrial disorders
TL;DR: This major update was carried out to identify new studies and grade the original studies for potential bias in accordance with revised Cochrane Collaboration guidelines to determine whether there is objective evidence to support the use of current treatments for mitochondrial disease.
Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease
Lyndsey Craven,Helen A. L. Tuppen,Gareth D. Greggains,Stephen J. Harbottle,J.L. Murphy,Lynsey M. Cree,Alison Murdoch,Patrick F. Chinnery,Robert W. Taylor,Robert N. Lightowlers,Mary Herbert,Douglass M. Turnbull,Douglass M. Turnbull +12 more
TL;DR: It is shown that transfer of pronuclei between abnormally fertilized human zygotes results in minimal carry-over of donor zygote mtDNA and is compatible with onward development to the blastocyst stage in vitro.
Current concepts in neuroanatomical tracing
TL;DR: The aim of this review is to consider some of the key methods of neuroanatomical tracing that are currently in use and have proved invaluable in charting the complex interconnections of the central nervous system.
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