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AssigneesFundació Hospital Universitari Vall D'Hebron—Institut De Recerca, Centro De InvestigacióN BioméDica En Red
InventorsRamon Martí Seves, Emiliano González Vioque, Cora Blázquez Bermejo, Javier Torres Torronteras, Raquel Cabrera Pérez, Yolanda Cámara Navarro
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The present invention provides a composition comprising one or more deoxyribonucleosides for use in the treatment of a mitochondrial DNA depletion and/or multiple deletions syndrome provided that the syndrome is not caused by a defect in the deoxyribonucleoside triphosphate (dNTP) metabolism. With the use of the invention there is a recovery in mitochondrial DNA levels independently from the severity of the patient's disease, which confers a great therapeutic value to the invention.
A method for the treatment of a mitochondrial DNA depletion and/or deletion syndrome due to one or more mutations in the DNA polymerase subunit gamma-1 (POLG1) protein, comprising the step of administering a therapeutically effective amount of a composition comprising deoxycytidine and deoxythymidine to a subject in need thereof, thereby treating the mitochondrial DNA depletion and/or deletion syndrome due to one or more mutations in the POLG1 protein, and wherein the deoxycytidine and deoxythymidine are present in the composition in equal amounts by weight.
A method for the treatment of a mitochondrial DNA depletion and/or deletion syndrome due to one or more mutations in the DNA polymerase subunit gamma-1 (POLG1) protein, comprising the step of administering a therapeutically effective amount of a composition comprising deoxycytidine and deoxythymidine to a subject in need thereof, thereby treating the mitochondrial DNA depletion and/or deletion syndrome due to one or more mutations in the POLG1 protein, wherein the deoxycytidine and deoxythymidine are present in the composition in an equimolar ratio.
A method for the treatment of a mitochondrial DNA depletion and/or deletion syndrome due to one or more mutations in the DNA polymerase subunit gamma-1 (POLG1) protein, comprising the step of administering a therapeutically effective amount of a composition comprising deoxycytidine and deoxythymidine to a subject in need thereof, thereby treating the mitochondrial DNA depletion and/or deletion syndrome due to one or more mutations in the POLG1 protein, wherein the deoxycytidine and deoxythymidine are present in the composition in equimolar amounts.
A method of increasing mtDNA levels in vivo, comprising administering a composition comprising deoxycytidine and deoxythymidine, and optionally one or more pharmaceutically acceptable inhibitors of nucleoside degradation, to a cell having one or more mutations in the POLG1 protein, thereby increasing the mtDNA level in vivo, wherein deoxycytidine and deoxythymidine are present in the composition in equal amounts by weight.
Dependencies are inferred from the claim text.