Suppression of complex I gene expression induces optic neuropathy

Xiaoping Qi, Alfred S. Lewin, William W. Hauswirth, John Guy

Research output: Contribution to journalArticlepeer-review

66 Scopus citations


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 languageEnglish (US)
Pages (from-to)198-205
Number of pages8
JournalAnnals of neurology
Issue number2
StatePublished - Feb 1 2003
Externally publishedYes

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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