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Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy
Author(s) -
Valentino Maria Lucia,
Avoni Patrizia,
Barboni Piero,
Pallotti Francesco,
Rengo Chiara,
Torroni Antonio,
Bellan Marzio,
Baruzzi Agostino,
Carelli Valerio
Publication year - 2002
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10193
Subject(s) - transversion , leber's hereditary optic neuropathy , mitochondrial dna , optic neuropathy , genetics , gene , mutation , nucleotide , biology , dna , microbiology and biotechnology , optic nerve , anatomy
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.