Codon-optimized reduced-size ATP7A cDNA and uses for treatment of copper transport disorders
AssigneeThe United States of America, as represented by the Secretary, Department of Health and Human Services
InventorStephen G. Kaler
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Abstract
Disclosed herein are codon-optimized nucleic acids encoding a reduced-size ATP7A protein. Also disclosed are vectors and recombinant viruses (such as recombinant adeno-associated viruses) including the codon-optimized nucleic acids encoding the reduced-size ATP7A protein and compositions including the disclosed vectors and viruses. Further disclosed herein are methods of treating copper transport disorders, for example by administering a disclosed nucleic acid, vector, or recombinant virus to a subject with a copper transport disorder, such as Menkes disease, occipital horn syndrome, or ATP7A-related distal motor neuropathy.
Claims9
A method of treating a subject with Menkes disease, comprising:
- (a) intracerebroventricularly administering to the subject an effective amount of a composition comprising:
- about 1×109 to about 1×1010 viral genome of an adeno-associated virus serotype 9 (AAV9) vector comprising a nucleic acid molecule consisting of the nucleic acid sequence as set forth in SEQ ID NO:
- 1 operably linked to a promoter, wherein the nucleic acid molecule encodes a reduced-size P-type ATPase copper-transporting ATPase 1 (ATP7A) protein;
- and a pharmaceutically acceptable carrier;
- and
- (b) administering an effective amount of copper to the subject,
- thereby treating the subject with Menkes disease.
Dependencies are inferred from the claim text.