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@ARTICLE{Zeng:283026,
      author       = {Zeng, Leopold Hongming and Priglinger, Claudia and
                      Klopstock, Thomas},
      title        = {{L}eber’s hereditary optic neuropathy – current status
                      of idebenone and gene replacement therapies},
      journal      = {Medizinische Genetik},
      volume       = {37},
      number       = {1},
      issn         = {0936-5931},
      address      = {Berlin},
      publisher    = {de Gruyter},
      reportid     = {DZNE-2025-01438},
      pages        = {57 - 63},
      year         = {2025},
      abstract     = {Leber’s hereditary optic neuropathy (LHON) is the most
                      common mitochondrial disease, and was the first to be linked
                      to mitochondrial DNA (mtDNA) variations. Recently, autosomal
                      recessive forms of LHON were described in addition to the
                      classical mtDNA-associated forms. Clinically, LHON manifests
                      with subacute and painless loss of central visual acuity, in
                      most cases starting unilaterally, and involving the second
                      eye a few weeks later. Almost all LHON cases are caused by
                      pathogenic variants in genes that code for proteins relevant
                      for function of Complex I of the respiratory chain. The
                      Complex I dysfunction in LHON leads to decreased ATP
                      synthesis and to increased production of reactive oxygen
                      species which ultimately initiates dysfunction and apoptosis
                      of retinal ganglion cells and their axons, the optic nerve.
                      Idebenone, a synthetic CoQ derivative, is a potent
                      intramitochondrial antioxidant and can shuttle electrons
                      directly to complex III of the respiratory chain, thereby
                      bypassing complex I deficiency. On the basis of several
                      clinical trials, it has been approved as a treatment for
                      LHON in 2015 (in the EU). In addition, direct intravitreal
                      gene replacement therapy is being investigated, with several
                      late-stage clinical trials already completed. In the future,
                      gene editing of mtDNA variants may also become a therapeutic
                      option.},
      cin          = {Clinical Research (Munich)},
      ddc          = {610},
      cid          = {I:(DE-2719)1111015},
      pnm          = {353 - Clinical and Health Care Research (POF4-353)},
      pid          = {G:(DE-HGF)POF4-353},
      typ          = {PUB:(DE-HGF)16},
      doi          = {10.1515/medgen-2024-2066},
      url          = {https://pub.dzne.de/record/283026},
}