title: Mitochondrial optic neuropathies: how two genomes may kill the same cell type?
abstract: 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.
authors.affiliation: Laboratory of Neurogenetics, Department of Neurological Sciences, University of Bologna, Via Ugo Foscolo 7, Bologna, 40123, Italy. valerio.carelli@unibo.it
authors.forename: Valerio
authors.initials: V
authors.lastname: Carelli
authors.forename: Chiara
authors.initials: C
authors.lastname: La Morgia
authors.forename: Luisa
authors.initials: L
authors.lastname: Iommarini
authors.forename: Rosanna
authors.initials: R
authors.lastname: Carroccia
authors.forename: Marina
authors.initials: M
authors.lastname: Mattiazzi
authors.forename: Simonetta
authors.initials: S
authors.lastname: Sangiorgi
authors.forename: Sabrina
authors.initials: S
authors.lastname: Farne'
authors.forename: Alessandra
authors.initials: A
authors.lastname: Maresca
authors.forename: Beatrice
authors.initials: B
authors.lastname: Foscarini
authors.forename: Lucia
authors.initials: L
authors.lastname: Lanzi
authors.forename: Marcello
authors.initials: M
authors.lastname: Amadori
authors.forename: Marzio
authors.initials: M
authors.lastname: Bellan
authors.forename: Maria Lucia
authors.initials: ML
authors.lastname: Valentino
mesh_terms: D017209:Apoptosis / Q000235:genetics / Q000502:physiology; D004272:DNA, Mitochondrial / Q000235:genetics; D042967:Electron Transport Complex I / Q000235:genetics / Q000378:metabolism; D006801:Humans; D028361:Mitochondrial Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D008954:Models, Biological; D009154:Mutation; D029241:Optic Atrophy, Autosomal Dominant / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D009901:Optic Nerve Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology*
chemical_list: D004272:DNA, Mitochondrial; D042967:Electron Transport Complex I