Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies

@article{YuWaiMan2011MitochondrialON,
  title={Mitochondrial optic neuropathies – Disease mechanisms and therapeutic strategies},
  author={P. Yu-Wai-Man and P. Griffiths and P. Chinnery},
  journal={Progress in Retinal and Eye Research},
  year={2011},
  volume={30},
  pages={81 - 114}
}
  • P. Yu-Wai-Man, P. Griffiths, P. Chinnery
  • Published 2011
  • Biology, Medicine
  • Progress in Retinal and Eye Research
  • Leber hereditary optic neuropathy (LHON) and autosomal-dominant optic atrophy (DOA) are the two most common inherited optic neuropathies in the general population. Both disorders share striking pathological similarities, marked by the selective loss of retinal ganglion cells (RGCs) and the early involvement of the papillomacular bundle. Three mitochondrial DNA (mtDNA) point mutations; m.3460G>A, m.11778G>A, and m.14484T>C account for over 90% of LHON cases, and in DOA, the majority of affected… CONTINUE READING
    384 Citations

    Paper Mentions

    Interventional Clinical Trial
    This study is meant to assess the safety and efficacy of rAAV2-ND4 treatment of Leber hereditary optic neuropathy with 11778 LHON mutation.  
    ConditionsLeber Hereditary Optic Neuropathy
    InterventionDrug
    A neurodegenerative perspective on mitochondrial optic neuropathies
    • 74
    • PDF
    Leber hereditary optic neuropathy—new insights and old challenges
    Leber’s Hereditary Optic Neuropathy as a Promising Disease for Gene Therapy Development
    • 2
    Leber hereditary optic neuropathy: current perspectives
    • 101
    • Highly Influenced
    • PDF

    References

    SHOWING 1-10 OF 529 REFERENCES
    Myelin, mitochondria, and autoimmunity
    • 13
    Inherited mitochondrial optic neuropathies
    • 305
    • PDF
    Genotype-phenotype correlations in Leber hereditary optic neuropathy.
    • 42
    Mitochondrial Optic Neuropathies: How Two Genomes may Kill the Same Cell Type?
    • 73
    Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines.
    • 107
    • PDF
    Neuropathology of white matter disease in Leber's hereditary optic neuropathy.
    • 97
    • PDF
    OPA1 mutations impair mitochondrial function in both pure and complicated dominant optic atrophy
    • 31
    • PDF
    Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration.
    • 104
    • PDF
    OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.
    • 413
    • Highly Influential
    • PDF
    Leber's hereditary optic neuropathy
    • 164