Mitochondrial DNA C4171A/ND1 is a Novel Primary Causative Mutation of Leber's Hereditary Optic Neuropathy with a Good Prognosis

Overview

Journal Ann Neurol

Specialty Neurology

Date 2002 Jul 12

PMID 12112111

Citations 18

Authors

Ji Yeon Kim

Jeong-Min Hwang

Sung Sup Park

Affiliations

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Abstract

A novel mitochondrial DNA C4171A mutation in the ND1 gene in two Korean families with Leber's hereditary optic neuropathy is described. All affected patients recovered spontaneously after suffering months to years of initial visual loss. This mutation replaces leucine with methionine in a conserved extramembrane loop of the ND1 gene and was absent in 514 normal controls and in 63 Leber's hereditary optic neuropathy lineages harboring the primary mutations. We consider mitochondrial DNA C4171A/ND1 a primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis.

Citing Articles

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Peripapillary retinal nerve fibre layer thinning, perfusion changes and optic neuropathy in carriers of Leber hereditary optic neuropathy-associated mitochondrial variants.

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Mitochondrial DNA mutations in Korean patients with Leber's hereditary optic neuropathy.

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Leber's hereditary optic neuropathy plus dystonia caused by the mitochondrial ND1 gene m.4160 T > C mutation.

Ren H, Lin Y, Li Y, Zhang X, Wang W, Xu X Neurol Sci. 2022; 43(9):5581-5592.

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