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

Małgorzata Rydzanicz; Małgorzata Mrugacz; Marzena Gajęcka

Abstract

3/2008 vol. 110

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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AMA

Rydzanicz M, Mrugacz M, Gajęcka M. Mutations in mitochondrial DNA in ocular diseases – Leber’s hereditary optic neuropathy and Kearns’ syndrome. Klinika Oczna / Acta Ophthalmologica Polonica. 2008;110(3):321-324.

APA

Rydzanicz, M., Mrugacz, M., & Gajęcka, M. (2008). Mutations in mitochondrial DNA in ocular diseases – Leber’s hereditary optic neuropathy and Kearns’ syndrome. Klinika Oczna / Acta Ophthalmologica Polonica, 110(3), 321-324.

Chicago

Rydzanicz, Małgorzata, Małgorzata Mrugacz, and Marzena Gajęcka. 2008. "Mutations in mitochondrial DNA in ocular diseases – Leber’s hereditary optic neuropathy and Kearns’ syndrome". Klinika Oczna / Acta Ophthalmologica Polonica 110 (3): 321-324.

Harvard

Rydzanicz, M., Mrugacz, M., and Gajęcka, M. (2008). Mutations in mitochondrial DNA in ocular diseases – Leber’s hereditary optic neuropathy and Kearns’ syndrome. Klinika Oczna / Acta Ophthalmologica Polonica, 110(3), pp.321-324.

MLA

Rydzanicz, Małgorzata et al. "Mutations in mitochondrial DNA in ocular diseases – Leber’s hereditary optic neuropathy and Kearns’ syndrome." Klinika Oczna / Acta Ophthalmologica Polonica, vol. 110, no. 3, 2008, pp. 321-324.

Vancouver

Rydzanicz M, Mrugacz M, Gajęcka M. Mutations in mitochondrial DNA in ocular diseases – Leber’s hereditary optic neuropathy and Kearns’ syndrome. Klinika Oczna / Acta Ophthalmologica Polonica. 2008;110(3):321-324.

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

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

Abstract

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

Keywords

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