Gene Therapy at University of Miami

The Bascom-Palmer Eye Institute and the McKnight Vision Research Center (both at the University of Miami, Florida) have been developing a Gene Therapy for several years. (10.1155/2011/179412)

The actual mitochondrial gene affected by the LHON 11778 mutation is called the ND4 gene.

At the University of Miami researchers have constructed a version of the ND4 gene which can  be used by the protein making “factory” as if it was a gene from the Nucleus of the cell, not a Mitochondrial gene.  It does not have any LHON gene mutations, but is slightly different to the normal or “wild type” Human Mitochondrial gene because the protein making “factory” used by the Mitochondrial Gene uses slightly different “instructions”.

This artifical  form of the ND4 Gene is combined with targeting information into and packaged into the shell of an  AAV virus.

Once the virus is injected into the eye, it delivers the DNA into the cells.  The cell’s protein manufacturing mechanism uses the ND4 gene to create unaffected copies of the ND4 protein.

At this point the cell is behaving as if the ND4 gene was in the Nucleus, not the Mitochondria.  The virus has “hijacked” the cells protein making “factory” which handles information from the Nucleus, and used it to create an unaffected copy of the ND4 protein.(23869167)

The targeting information directs the protein into the Mitochondrial membranes, where it combines with other proteins to form Complex I of the Respiratory Chain.


This treatment will help those with LHON mutations in the ND4 Gene, such as the G11778A mutaation, but will not be suitable for treating people affected by the 3460 mutation, which is in the ND1 Gene, or the 14484 mutation, which is in the ND6 Gene.

GenSight have a therapy containing the ND1 Gene (the 3460 LHON mutation) in their


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