Codon-optimized reduced-size atp7a cdna and uses for treatment of copper transport disorders
AssigneeThe United States of America, as represented by the Secretary, Dept. 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.
Claims22
A method of treating a subject with a P-type ATPase copper-transporting ATPase 1 (ATP7A)-related copper transport disorder, comprising:
- (a) intravenously, intrathecally, or intracerebroventricularly administering to the subject an effective amount of a composition comprising:
- a vector comprising a nucleic acid molecule encoding an isolated codon-optimized nucleic acid molecule encoding a reduced-size ATP7A protein wherein the nucleic acid sequence comprises SEQ ID NO:
- 1 operably linked to a promoter;
- and
- a pharmaceutically acceptable carrier, and
- (b) administering to the subject an effective amount of copper,
- thereby treating the subject with the ATP7A-related copper transport disorder.
A method of treating a subject with Menkes disease, comprising:
- intravenously administering to the subject an effective amount of a composition comprising:
- (a) a vector comprising a nucleic acid encoding an isolated codon-optimized nucleic acid molecule encoding a reduced-size P-type ATPase copper-transporting ATPase 1 (ATP7A) protein wherein the nucleic acid comprises SEQ ID NO:
- 1 operably linked to a promoter;
- and
- (b) a pharmaceutically acceptable carrier;
- and
- administering to the subject an effective amount of copper,
- wherein the composition and the copper are administered to the subject sequentially, substantially simultaneously, or simultaneously, thereby treating the subject with Menkes disease.
Dependencies are inferred from the claim text.