Mitochondrial optic neuropathies: how two genomes may kill the same cell type?
| Autor: | Marina Mattiazzi, Marcello Amadori, Luisa Iommarini, Simonetta Sangiorgi, Alessandra Maresca, Lucia Lanzi, Rosanna Carroccia, Maria Lucia Valentino, Valerio Carelli, Chiara La Morgia, Sabrina Farne, B. Foscarini, Marzio Bellan |
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| Přispěvatelé: | Carelli V., La Morgia C., Iommarini L., Carroccia R., Mattiazzi M., Sangiorgi S., Farné S., Maresca A., Foscarini B., Lanzi L., Amadori M., Bellan M., Valentino M.L. |
| Jazyk: | angličtina |
| Rok vydání: | 2007 |
| Předmět: |
Mitochondrial DNA
Mitochondrial Diseases genetic structures Biophysics Apoptosis Optic Atrophy Hereditary Leber Mitochondrion Biology medicine.disease_cause DNA Mitochondrial Models Biological Biochemistry Retinal ganglion Optic neuropathy Optic Atrophy Autosomal Dominant Optic Nerve Diseases medicine Humans Molecular Biology Genetics Mutation Electron Transport Complex I Point mutation Leber's hereditary optic neuropathy Cell Biology medicine.disease eye diseases sense organs Mitochondrial optic neuropathies |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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