Mutations in mitochondrial DNA in ocular diseases 
– Leber’s hereditary optic neuropathy and Kearns’ 
syndrome

Małgorzata Rydzanicz; Małgorzata Mrugacz; Marzena Gajęcka

eISSN: 2719-3209
ISSN: 0023-2157

Klinika Oczna / Acta Ophthalmologica Polonica

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3/2008
vol. 110

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abstract:

Review article

Mutations in mitochondrial DNA in ocular diseases – Leber’s hereditary optic neuropathy and Kearns’ syndrome

Małgorzata Rydzanicz

¹

,

Małgorzata Mrugacz

²

,

Marzena Gajęcka

¹

Z Zakładu Mutagenezy Środowiskowej Instytutu Genetyki Człowieka Polskiej Akademii Nauk w Poznaniu
Z Kliniki Okulistyki Dziecięcej Akademii Medycznej w Białymstoku

Online publish date: 2008/09/15

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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.

keywords:

Mutations in mitochondrial DNA in ocular diseases – Leber’s hereditary optic neuropathy and Kearns’ syndrome

Małgorzata Rydzanicz 1 , Małgorzata Mrugacz 2 , Marzena Gajęcka 1

mitochondrial inheritance, mtDNA mutations, heteroplasmy, Leber’s hereditary optic neuropathy, Kearns’ syndrome

Małgorzata Rydzanicz

¹

,

Małgorzata Mrugacz

²

,

Marzena Gajęcka

¹