Article
Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype.
Neurology - 1 Jun 1997
Carelli V, Ghelli A, Ratta M, Bacchilega E, Sangiorgi S, Mancini R, Leuzzi V, Cortelli P, Montagna P, Lugaresi E, Degli Esposti M
Abstract excerpt
To clarify the bioenergetic relevance of mtDNA mutations in Leber's hereditary optic neuropathy (LHON), we investigated affected individuals and healthy carriers from six Italian LHON families harboring the 11778/ND4 and the 3460/ND1 mtDNA mutations. The enzymatic activities of mitochondrial complex I and its sensitivity to the potent inhibitors rotenone and rolliniastatin-2 were studied in mitochondrial...
Topics
- Antineoplastic Agents, Phytogenic
- Blood Platelets
- DNA, Mitochondrial
- Family Health
- Female
- Furans
- Genotype
- Humans
- Leukocytes
- Male
- Mitochondria
- NADH, NADPH Oxidoreductases
- Optic Atrophies, Hereditary