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

被引：37

作者：

Valentino, ML

Avoni, P

Barboni, P

Pallotti, F

Rengo, C

Torroni, A

Bellan, M

Baruzzi, A

Carelli, V

机构：

[1] Univ Bologna, Dipartimento Sci Neurol, I-40123 Bologna, Italy

[2] Ctr Salus, Dipartimento Oftalmol, Bologna, Italy

[3] Columbia Univ Coll Phys & Surg, Dept Neurol, New York, NY 10032 USA

[4] Univ Roma La Sapienza, Dipartimento Genet & Biol Mol, I-00185 Rome, Italy

[5] Univ Cattolica Sacro Cuore, Ist Med Legale, Rome, Italy

[6] Univ Pavia, Dept Genet & Microbiol, I-27100 Pavia, Italy

来源：

ANNALS OF NEUROLOGY | 2002年 / 51卷 / 06期

关键词：

D O I：

10.1002/ana.10193

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：774 / 778

页数：5

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