Journal Title
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Abbravation: Bioscience Reports
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Publisher
Portland Press Limited
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Authors: Valerio Carelli Chiara La Morgia Luisa Iommarini Rosanna Carroccia Marina Mattiazzi Simonetta Sangiorgi Sabrina Farne Alessandra Maresca Beatrice Foscarini Lucia Lanzi Marcello Amadori Marzio Bellan Maria Lucia Valentino
Publish Date: 2007/06/13
Volume: 27, Issue: 1-3, Pages: 173-184
Abstract
Ocular involvement is a prevalent feature in mitochondrial diseases Lebers hereditary optic neuropathy LHON and dominant optic atrophy DOA are both nonsyndromic optic neuropathies with a mitochondrial etiology LHON is associated with point mutations in the mitochondrial DNA mtDNA which affect subunit genes of complex I The majority of DOA patients harbor mutations in the nuclearencoded protein OPA1 which is targeted to mitochondria and participates to cristae organization and mitochondrial network dynamics In both disorders the retinal ganglion cells RGCs are specific cellular targets of the degenerative process We here review the clinical features and the genetic bases and delineate the possible common pathomechanism for both these disorders
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