Mitochondrial optic neuropathies

How two genomes may kill the same cell type?

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

Research output: Contribution to journalArticle

58 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)173-184
Number of pages12
JournalBioscience Reports
Volume27
Issue number1-3
DOIs
Publication statusPublished - Jun 2007

Fingerprint

Autosomal Dominant Optic Atrophy
Leber's Hereditary Optic Atrophy
Optic Nerve Diseases
Optics
Genes
Genome
Mitochondrial Dynamics
Mitochondrial Diseases
Retinal Ganglion Cells
Nuclear Proteins
Mitochondrial DNA
Point Mutation
Mitochondria
Mutation
Ports and harbors

Keywords

  • Dominant optic atrophy
  • Leber's hereditary optic neuropathy
  • Mitochondrial diseases
  • Retinal ganglion cells

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Cell Biology

Cite this

Mitochondrial optic neuropathies : How two genomes may kill the same cell type? / 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.

In: Bioscience Reports, Vol. 27, No. 1-3, 06.2007, p. 173-184.

Research output: Contribution to journalArticle

Carelli, V, La Morgia, C, Iommarini, L, Carroccia, R, Mattiazzi, M, Sangiorgi, S, Farne', S, Maresca, A, Foscarini, B, Lanzi, L, Amadori, M, Bellan, M & Valentino, ML 2007, 'Mitochondrial optic neuropathies: How two genomes may kill the same cell type?', Bioscience Reports, vol. 27, no. 1-3, pp. 173-184. https://doi.org/10.1007/s10540-007-9045-0
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. / Mitochondrial optic neuropathies : How two genomes may kill the same cell type?. In: Bioscience Reports. 2007 ; Vol. 27, No. 1-3. pp. 173-184.
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