Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy

Maria Lucia Valentino, Patrizia Avoni, Piero Barboni, Francesco Pallotti, Chiara Rengo, Antonio Torroni, Marzio Bellan, Agostino Baruzzi, Valerio Carelli

Research output: Contribution to journalArticlepeer-review

Abstract

A novel mitochondrial DNA nucleotide transversion, C14482A (M64I), different from the previously reported C14482G (M64I), was found to cause Leber's hereditary optic neuropathy with visual recovery in an Italian family. These equivalent changes are the fifth pathogenic mutation for pure Leber's hereditary optic neuropathy. This confirms that the ND6 gene of complex I is a mutational hot spot and suggests that different amino acid substitutions at residue 64, as induced by C14482G or C14482A (M64I) and the common T14484C (M64V) mutations, are associated with visual recovery.

Original languageEnglish
Pages (from-to)774-778
Number of pages5
JournalAnnals of Neurology
Volume51
Issue number6
DOIs
Publication statusPublished - 2002

ASJC Scopus subject areas

  • Neuroscience(all)

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