Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy
Article first published online: 3 MAY 2002
Copyright © 2002 Wiley-Liss, Inc.
Annals of Neurology
Volume 51, Issue 6, pages 774–778, June 2002
How to Cite
Valentino, M. L., Avoni, P., Barboni, P., Pallotti, F., Rengo, C., Torroni, A., Bellan, M., Baruzzi, A. and Carelli, V. (2002), Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy. Ann Neurol., 51: 774–778. doi: 10.1002/ana.10193
- Issue published online: 21 MAY 2002
- Article first published online: 3 MAY 2002
- Manuscript Revised: 2 FEB 2002
- Manuscript Accepted: 2 FEB 2002
- Manuscript Received: 19 NOV 2001
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.