title: Investigating Leber's hereditary optic neuropathy: Cell models and future perspectives.
abstract: Leber's hereditary optic neuropathy (LHON) was the first human disease found to be associated with a mitochondrial DNA (mtDNA) point mutation. The most common LHON mutations are 11778G>A, 3460G>A or 14484T>C. The most common clinical features of LHON are optic nerve and retina atrophy. The affected tissue is not available for studies, therefore a variety of other cell types are used. However, all models face difficulties and limitations in mitochondrial disease research. The advantages and disadvantages of different cell models used to study LHON, recent advances in animal model generation and novel approaches in this field are discussed.
authors.affiliation: Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, 5a Pawińskiego Str., 02-106 Warsaw, Poland.
authors.forename: Elona
authors.initials: E
authors.lastname: Jankauskaitė
authors.affiliation: Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, 5a Pawińskiego Str., 02-106 Warsaw, Poland; Institute of Biochemistry and Biophysics, Polish Academy of Sciences, 5a Pawińskiego Str., 02-106 Warsaw, Poland.
authors.forename: Ewa
authors.initials: E
authors.lastname: Bartnik
authors.affiliation: Institute of Genetics and Biotechnology, Faculty of Biology, University of Warsaw, 5a Pawińskiego Str., 02-106 Warsaw, Poland. Electronic address: agatakodron@wp.pl.
authors.forename: Agata
authors.initials: A
authors.lastname: Kodroń
mesh_terms: D000818:Animals; D035843:Biomedical Research / Q000639:trends; D003584:Cytological Techniques / Q000379:methods*; D004195:Disease Models, Animal; D006801:Humans; D008954:Models, Biological; D029242:Optic Atrophy, Hereditary, Leber / Q000473:pathology*
keywords: Cell line models; Leber's hereditary optic neuropathy; Mitochondrial DNA; Mitochondrial genome editing; Retinal ganglion cells