Article
Mitochondrial optic neuropathies: how two genomes may kill the same cell type?
Bioscience reports - 1 Jun 2007
Carelli Valerio, La Morgia Chiara, Iommarini Luisa, Carroccia Rosanna, Mattiazzi Marina, Sangiorgi Simonetta, Farne' Sabrina, Maresca Alessandra, Foscarini Beatrice, Lanzi Lucia, Amadori Marcello, Bellan Marzio, Valentino Maria Lucia
Abstract excerpt
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,...
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