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US 12,215,382 B2Granted
Liver protective MARC variants and uses thereof
AssigneeThe General Hospital Corporation
InventorsSekar Kathiresan, Connor Emdin
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Abstract
Described herein are MARC variants that associate with a risk of liver diseases or a symptom(s) thereof, such as cirrhosis, or protection against such liver diseases or symptom(s) thereof. Also described herein are compositions and formulations that can be capable of modulating MARC in a subject and/or treatment of a liver disease or a symptom thereof.
Claims12
A method of making a protective modification of a MARC1 gene in a subject comprising:
- detecting a MARC1 protein variant or a MARC1 protein variant-encoding polynucleotide in the subject, wherein the MARC1 protein variant comprises alanine at a position in the MARC1 protein of the subject corresponding to position 165 of SEQ ID NO:
- 1;
- and
- administering, to the subject thereof having the MARC1 protein variant or the MARC1 protein variant-encoding polynucleotide, a programmable nuclease-based system comprising a nuclease or a guide polynucleotide each configured to bind a target polynucleotide, wherein the target polynucleotide is the MARC1 protein variant-encoding polynucleotide, and
- wherein the programmable nuclease-based system is configured to modify the MARC1 protein variant-encoding polynucleotide from the alanine at the position in the MARC1 protein of the subject corresponding to position 165 of SEQ ID NO:
- 1 to a threonine, thereby making a protective modification of the MARC1 gene in the subject.
3 more elements
A method of reducing total cholesterol, low-density lipoprotein, or a combination thereof in a subject thereof, comprising:
- detecting a MARC1 protein variant or a MARC1 protein variant-encoding polynucleotide in the subject, wherein the MARC1 protein variant comprises alanine at a position in the MARC1 protein of the subject corresponding to position 165 of SEQ ID NO:
- 1;
- and
- administering to the subject having the MARC1 protein variant or the MARC1 protein variant-encoding polynucleotide a programmable nuclease-based system comprising a nuclease or a guide polynucleotide each configured to bind a target polynucleotide, wherein the target polynucleotide is the MARC1 protein variant-encoding polynucleotide,
- wherein the programmable nuclease-based system is configured to modify the MARC1 protein variant-encoding polynucleotide, wherein the modification comprises modifying the alanine at the position in the MARC1 protein of the subject corresponding to position 165 of SEQ ID NO:
- 1 to a threonine, thereby reducing total cholesterol, low-density lipoprotein, or a combination thereof in the subject.
3 more elements
Dependencies are inferred from the claim text.