Document Detail

Mitochondrial dysfunction in optic neuropathies: animal models and therapeutic options.
MedLine Citation:
PMID:  23302804     Owner:  NLM     Status:  MEDLINE    
PURPOSE OF REVIEW: We review the recent advances in animal models generated to study the complexities of mitochondrial optic neuropathies and the therapeutic strategies proposed for these disorders.
RECENT FINDINGS: We have recently witnessed a rapid proliferation of animal models attempting to recapitulate the clinical and pathogenic features of human genetic mitochondrial optic neuropathies, that is Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA). Although the generation of an animal model of disorders due to nuclear gene defects is well established and technically feasible, for mitochondrial DNA (mtDNA)-based diseases, there have been major limitations. Notwithstanding these difficulties, various approaches circumvented the problem by proposing biochemical or tissue-specific delivery models of mutant mtDNA able to induce retinal ganglion cell disease, contextually providing gene therapy solutions. Recently, the first mito-mice model of LHON has also been reported. In addition to gene therapy, new generation quinone-derived molecules and other strategies based on pharmacological activation of mitochondrial biogenesis are currently being tested, with the first clinical trials being initiated in humans.
SUMMARY: Major advancements have been achieved in delivering mtDNA to mitochondria and generating faithful animal models of mtDNA-based optic neuropathy. The availability of these approaches, including animal models of nuclear-encoded optic neuropathies, provides unprecedented opportunities to test therapies, both genetic and pharmacological, paving the road to clinical trials in humans.
Valerio Carelli; Chiara La Morgia; Alfredo A Sadun
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Current opinion in neurology     Volume:  26     ISSN:  1473-6551     ISO Abbreviation:  Curr. Opin. Neurol.     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-01-10     Completed Date:  2013-06-25     Revised Date:  2014-03-19    
Medline Journal Info:
Nlm Unique ID:  9319162     Medline TA:  Curr Opin Neurol     Country:  England    
Other Details:
Languages:  eng     Pagination:  52-8     Citation Subset:  IM    
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MeSH Terms
DNA, Mitochondrial / genetics*
Disease Models, Animal
Optic Atrophy, Autosomal Dominant / genetics*,  therapy*
Optic Atrophy, Hereditary, Leber / genetics*,  therapy*
Grant Support
EY03040/EY/NEI NIH HHS; GGP11182//Telethon
Reg. No./Substance:
0/DNA, Mitochondrial

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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