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Review
. 2017 Nov;65(11):1087-1092.
doi: 10.4103/ijo.IJO_358_17.

Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy

Agaath Hedina Manickam  1 , Minu Jenifer Michael  1 , Sivasamy Ramasamy  2
Affiliations
Review

Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy

Agaath Hedina Manickam et al. Indian J Ophthalmol. 2017 Nov.

Abstract

Leber's hereditary optic neuropathy (LHON) is a common inherited mitochondrial disorder that is characterized by the degeneration of the optic nerves, leading to vision loss. The major mutations in the mitochondrial genes ND1, ND4, and ND6 of LHON subjects are found to increase the oxidative stress experienced by the optic nerve cell, thereby leading to nerve cell damage. Accurate treatments are not available and drugs that are commercially available like Idebenone, EPI-743, and Bendavia with their antioxidant role help in reducing the oxidative stress experienced by the cell thereby preventing the progression of the disease. Genetic counseling plays an effective role in making the family members aware of the inheritance pattern of the disease. Gene therapy is an alternative for curing the disease but is still under study. This review focuses on the role of mitochondrial genes in causing LHON and therapeutics available for treating the disease. A systematic search has been adopted in various databases using the keywords "LHON," "mitochondria," "ND1," "ND4," "ND6," and "therapy" and the following review on mitochondrial genetics and therapeutics of LHON has been developed with obtained articles from 1988 to 2017.

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Conflict of interest statement

There are no conflicts of interest.

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References

    1. Abu-Amero KK, Bosley TM. Mitochondrial abnormalities in patients with LHON-like optic neuropathies. Invest Ophthalmol Vis Sci. 2006;47:4211–20. - PubMed
    1. Sadun AA, La Morgia C, Carelli V. Leber's hereditary optic neuropathy. Curr Treat Options Neurol. 2011;13:109–17. - PubMed
    1. Levin LA. Mechanisms of retinal ganglion specific-cell death in leber hereditary optic neuropathy. Trans Am Ophthalmol Soc. 2007;105:379–91. - PMC - PubMed
    1. Vergani L, Martinuzzi A, Carelli V, Cortelli P, Montagna P, Schievano G, et al. MtDNA mutations associated with Leber's hereditary optic neuropathy: Studies on cytoplasmic hybrid (cybrid) cells. Biochem Biophys Res Commun. 1995;210:880–8. - PubMed
    1. Kirches E. LHON: Mitochondrial mutations and more. Curr Genomics. 2011;12:44–54. - PMC - PubMed

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