research-review:efficacy-and-safety-of-voretigene-neparvovec-phase3
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research-review:efficacy-and-safety-of-voretigene-neparvovec-phase3 [2020/01/11 04:19] marcos [Monogeneic blindness] |
research-review:efficacy-and-safety-of-voretigene-neparvovec-phase3 [2020/01/13 20:13] (current) danny |
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| ===== Monogenic blindness ===== | ===== Monogenic blindness ===== | ||
| - | The gene //RPE65// encodes for an enzyme that participates in the visual cycle. The cells in the retina that sense light are called rods and cones. They are made of stacks of membrane proteins which are sensitive to light. Specifically these proteins bind a pigment molecule called | + | The gene //RPE65// encodes for an enzyme that participates in the visual cycle. The cells in the retina that sense light are called rods and cones. They are made of stacks of membrane proteins which are sensitive to light. Specifically these proteins bind a pigment molecule called retinal. When light of a correct wavelength excites the pigment it isomerizes and induces a conformational change in the protein. This results in a signal which is processed in the brain into sight. The retinal isomer is then removed from the protein and regenerated into a form which can be reloaded onto the protein. A key enzyme in this regeneration is the product of //RPE65//. Without this enzyme an individual will eventually go blind. |
| ===== Gene therapy technology ===== | ===== Gene therapy technology ===== | ||
| - | A good overview of the way in which synthetic DNA is delivered into a human is the reference below: | + | Monogenic diseases are good candidates for gene therapy as there is a single genetic factor responsible for the disease phenotype. In order to be successful a gene therapy needs to be delivered into the appropriate cell where the disease causing lesion needs to be repaired. There are many different potential ways to accomplish this delivery. The most commonly used is a recombinant virus; however, recombinant bacteria, electricity, physical force, and chemical transfection products could be used. |
| - | Schultz BR, Chamberlain JS. Recombinant adeno-associated virus transduction and integration. //Mol Ther//. 2008;16(7):1189-1199. doi:[[https://doi.org/10.1038/mt.2008.103|10.1038/mt.2008.103]] | + | Adeno-associated virus cannot replicate by itself. It requires confection with a helper virus (which contains the necessary machinery to replicate itself) to be able to replicate. This virus injects it's DNA into a host cell and this usually maintained as an episomal concatamer. This means the injected DNA remains as a "loose" piece if DNA outside of the chromosomes. |
| + | A good overview of the way in which synthetic DNA is delivered into a human by adeno-associated virus is the reference below: | ||
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| + | Schultz BR, Chamberlain JS. Recombinant adeno-associated virus transduction and integration. //Mol Ther//. 2008;16(7):1189-1199. doi:[[https://doi.org/10.1038/mt.2008.103|10.1038/mt.2008.103]] | ||
| + | --- //[[user:danny|Daniel Chan]] 2020/01/13 19:24// | ||
research-review/efficacy-and-safety-of-voretigene-neparvovec-phase3.1578716354.txt.gz · Last modified: 2020/01/11 04:19 by marcos
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