Ocular involvement is a prevalent feature in mitochondrial diseases. Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA) are both non-syndromic 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 nuclear-encoded 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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Research Article|
June 13 2007
Mitochondrial Optic Neuropathies: How Two Genomes may Kill the Same Cell Type?
Valerio Carelli;
Valerio Carelli
1Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy
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Chiara La Morgia;
Chiara La Morgia
1Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy
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Luisa Iommarini;
Luisa Iommarini
1Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy
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Rosanna Carroccia;
Rosanna Carroccia
1Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy
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Marina Mattiazzi;
Marina Mattiazzi
1Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy
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Simonetta Sangiorgi;
Simonetta Sangiorgi
1Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy
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Sabrina Farne';
Sabrina Farne'
1Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy
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Alessandra Maresca;
Alessandra Maresca
1Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy
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Beatrice Foscarini;
Beatrice Foscarini
1Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy
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Lucia Lanzi;
Lucia Lanzi
1Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy
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Marcello Amadori;
Marcello Amadori
1Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy
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Marzio Bellan;
Marzio Bellan
1Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy
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Maria Lucia Valentino
Maria Lucia Valentino
1Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna 40123, Italy
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Publisher: Portland Press Ltd
Online ISSN: 1573-4935
Print ISSN: 0144-8463
© 2007 The Biochemical Society
2007
Biosci Rep (2007) 27 (1-3): 173–184.
Citation
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; Mitochondrial Optic Neuropathies: How Two Genomes may Kill the Same Cell Type?. Biosci Rep 13 June 2007; 27 (1-3): 173–184. doi: https://doi.org/10.1007/s10540-007-9045-0
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