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AssigneeUniversity of South Florida
InventorsEdwin WEEBER, Kevin R. NASH, Qingyou LI, Nicole MORRILL
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Fragile X syndrome (FXS) is the most common inherited form of human intellectual disability. FXS is caused by loss of function of the FMR1 gene which results in significant behavioral deficits in spatial learning and memory tests. FMR1−/− knockout mice share many of the learning deficits and decreased synaptic function encountered in FXS patients. Anecdotal evidence indicates a reduction in the amount of Reelin, a large extracellular signaling protein important for normal hippocampal synaptic plasticity, may play role in the etiology of FXS. Disclosed herein is a rAAV9 Reelin viral vector expressing a REELIN repeat R3+R6 fusion protein that is shown to rescue cognitive deficits in FMR1−/− mice as evaluated in the Hidden Platform Water Maze, Open Field and Fear Conditioning. Reelin gene therapy is therefore potentially a novel therapeutic for the treatment of Fragile X Syndrome.
A method of treating at least one symptom of a patient suffering from Fragile X Syndrome, comprising administering a therapeutically effective amount of a REELIN adeno-associated viral (AAV) vector expressing a secreted recombinant REELIN fusion protein, wherein the REELIN fusion protein comprises an N-terminal REELIN R3 repeat encoded by the nucleotide sequence of SEQ ID NO:
A method of treating at least one symptom of a patient suffering from Fragile X Syndrome, comprising administering a therapeutically effective amount of a REELIN adeno-associated viral (AAV) vector expressing a secreted recombinant REELIN fusion protein, wherein the fusion protein comprises an C-terminal R6 REELIN repeat encoded by the nucleotide sequence of SEQ ID NO:
A method of treating at least one symptom of a patient suffering from Fragile X Syndrome, comprising administering a therapeutically effective amount of a REELIN adeno-associated viral (AAV) vector expressing a secreted recombinant REELIN fusion protein, wherein the REELIN fusion protein does not comprise REELIN repeats R4 or R5.
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