Abstract
Optic nerve degeneration is a feature common to diseases with mutations in genes that encode complex I of the respiratory chain. Vulnerability of this central nervous system tract is a mystery, because of the paucity of animal models used to investigate effects of the mutated DNA in tissues rather than isolated in cultured cells. Using a ribozyme designed to degrade the mRNA encoding a critical nuclear-encoded subunit gene of complex I (NDUFA1), we tested whether oxidative phosphorylation deficiency can recapitulate the optic neuropathy of mitochondrial disease. Injection of adeno-associated virus expressing this ribozyme led to axonal destruction and demyelination, the hallmarks of Leber hereditary optic neuropathy.
Original language | English (US) |
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Pages (from-to) | 198-205 |
Number of pages | 8 |
Journal | Annals of neurology |
Volume | 53 |
Issue number | 2 |
DOIs | |
State | Published - Feb 1 2003 |
Externally published | Yes |
ASJC Scopus subject areas
- Neurology
- Clinical Neurology