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US 12,723,062 B2Granted
Methods of treating mitochondrial disorders
AssigneeThe Regents of the University of California
InventorStephanie Cherqui
Life of this patent
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Abstract
Provided herein are methods for treating a disease or disorder associated with mitochondrial dysfunction through ex vivo introduction of a nucleic acid molecule into hematopoietic stem and progenitor cells (HSPCs) followed by transplantation of the HSPCs into a subject in need of treatment. The nucleic acid molecule may include a functional human frataxin (hFXN) or may include a gene editing system that when transfected into the cells removes a trinucleotide extension mutation of endogenous hFXN.
Claims14
A method of treating Friedreich's ataxia (FRDA) in a subject comprising:
- (i) expressing, in a hematopoietic stem and progenitor cell (HSPC) of the subject expressing a mutated endogenous human frataxin (hFXN) gene or reduced levels of hFXN mRNA, a gene editing system that removes a trinucleotide extension mutation when present in the mutated endogenous hFXN gene to produce HSPCs and cells differentiated therefrom expressing a functional hFXN gene, a functional hFXN mRNA, a functional hFXN protein or a combination thereof,
- wherein the functional hFXN gene, the functional hFXN mRNA, or the functional hFXN protein is a mitochondria-specific isoform, and
- wherein the HSPCs expressing the functional hFXN gene, or the cells differentiated therefrom, transfer the functional hFXN gene, the functional hFXN mRNA, the functional hFXN protein or a combination thereof to a diseased cell in a tissue or the central nervous system (CNS), and
- (ii) reducing one or more symptoms of FRDA.
- thereby treating FRDA in the subject.
2 more elements
Dependencies are inferred from the claim text.