m.3635G>A mutation as a cause of Leber hereditary optic neuropathy

2014/04/19 by Agata Kodroń, Maciej R Krawczyński, M Krawczyński +2 · 2 citations
Biochemistry, Genetics and Molecular Biology · #Mitochondrial Function and Pathology #ATP Synthase and ATPases Research #RNA and protein synthesis mechanisms

paper · doi:10.1136/jclinpath-2014-202192

Abstract

Over 90% of Leber's hereditary optic neuropathy (LHON) is caused by one of three mtDNA mutations (m.11778A>G, m.3460G>A, m.14484T>C). The remaining cases are due to rare mutations in different genes encoding subunits of the respiratory chain. The proband is a 17-year-old male with symptoms of optic nerve atrophy. No common LHON mutations were found, but detailed sequencing identified a rare, homoplasmic mutation m.3635G>A in the ND1 gene.

Cited by

• Whole Mitochondrial Genome Analysis in Serbian Cases of Leber's Hereditary Optic Neuropathy. [europepmc]
• Leber's Hereditary Optic Neuropathy Arising From the Synergy Between ND1 3635G>A Mutation and Mitochondrial YARS2 Mutations. [europepmc]

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