title: [Mutations in mitochondrial DNA in ocular diseases--Leher's hereditary optic neuropathy and Kearns' syndrome].
abstract: Mitochondrial diseases are caused by mitochondrial structure aberrations and function deficiency. The clinical heterogeneity of mitochondrial diseases is associated with the type of causing mutations (de novo or maternally transmitted mutations), and several aspects of mitochondrial genetics and inheritance, including heteroplasmy. In this paper, we explain the basics of mitochondrial genetics and inheritance as well as genetic background of mitochondrial related disorders: Leber's hereditary optic neuropathy and Kearns' syndrome.
authors.affiliation: Z Zakładu Mutagenezy Srodowiskowej Instytutu Genetyki Człowieka Polskiej Akademii Nauk, Poznaniu. marydz@man.poznan.pl
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Rydzanicz
authors.forename: Małgorzata
authors.initials: M
authors.lastname: Mrugacz
authors.forename: Marzena
authors.initials: M
authors.lastname: Gajecka
mesh_terms: D004272:DNA, Mitochondrial; D005817:Genetic Counseling / Q000379:methods; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics*; D008928:Mitochondria / Q000235:genetics*; D009154:Mutation; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D014786:Vision Disorders / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial