| | Gene Therapy - Abstract of article: Adeno-associated virus-mediated gene transfer of the heart//muscle adenine ... (Site not responding. Last check: 2007-10-21) |
 | | Mitochondrial myopathy, associated with muscle weakness and progressive external ophthalmoplegia, is caused by mutations in mitochondria oxidative phosphorylation genes including the heart−muscle isoform of the mitochondrial adenine nucleotide translocator (ANT1). |
 | | The transgene ANT1 protein was targeted to the mitochondrion, was inserted into the mitochondrial inner membrane, formed a functional ADP/ATP carrier, increased the mitochondrial export of ATP and reversed the histopathological changes associated with the mitochondrial myopathy. |
 | | Thus, AAV transduction has the potential of providing symptomatic relief for the ophthalmoplegia and ptosis resulting from paralysis of the extraocular eye muscles cause by mutations in the Ant1 gene. |
| www.nature.com /gt/journal/v12/n7/abs/3302443a.html (280 words) |