Deoxyribonucleoside monophospate bypass therapy for mitochondrial DNA depletion syndrome
AssigneeThe Trustees of Columbia University in the City of New York
InventorsMichio Hirano, Caterina Garone
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Abstract
The present invention provides a pharmacological therapy using deoxyribonucleoside monophosphate compounds, or mixtures thereof, for the treatment of human genetic diseases. The compounds of the present invention can be used to treat mitochondrial DNA depletion syndromes or other disorders of unbalanced nucleotide pools, such as thymidine kinase 2 (TK2) deficiency.
Claims25
A method of treating thymidine kinase 2 (TK2) deficiency in a subject in need thereof comprising administering to the subject a therapeutically effective amount of a composition comprising thymidine-5′-monophosphate (TMP) and 2′-deoxycytidine-5′-monophosphate (dCMP).
A method for the treatment of TK deficiency in a subject comprising:
- a. obtaining a sample from the subject, said sample comprising nucleic acid;
- b. performing sequence analysis of the TK2 gene in the nucleic acid of the subject;
- c. determining the subject has TK2 deficiency when a homozygous mutation or compound heterozygous mutations in the TK2 gene is detected;
- and
- d. administering a therapeutically effective amount of a composition comprising 2′-deoxycytidine-5′-monophosphate (dCMP), thymidine-5′-monophosphate (TMP), and mixtures thereof to the subject.
Dependencies are inferred from the claim text.