Variants of SIRTUIN 6 for treatment of non-alcoholic fatty liver disease
By using nucleic acid molecules encoding SIRT6 variants with N308K and/or A313S mutations and delivering them to liver cells using viral vectors, the treatment challenges of NAFLD and NASH were addressed, achieving the effects of reducing fat accumulation and lowering inflammation.
Patent Information
- Application Number
- CN202380093336.4
- Authority / Receiving Office
- CN · China
- Patent Type
- Applications(China)
- Current Assignee / Owner
- Priority Date
- 2022-12-08
- Filing Date
- 2023-12-08
- Publication Date
- 2025-09-16
AI Technical Summary
Existing technologies are unable to effectively prevent and treat non-alcoholic fatty liver disease (NAFLD), especially non-alcoholic steatohepatitis (NASH), the progression of which may lead to liver fibrosis and cirrhosis.
Nucleic acid molecules encoding SIRT6 variants with N308K and/or A313S mutations are delivered to hepatocytes via viral vectors such as adeno-associated virus (AAV) to express SIRT6 polypeptides to regulate fat accumulation and inflammatory response.
Significantly reduces fat accumulation in hepatocytes, lowers the risk of inflammation and fibrosis, and prevents the progression of NAFLD to NASH and cirrhosis.
Smart Images

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Abstract
Claims
1. An isolated nucleic acid molecule encoding a variant of sirtuin 6 (SIRT6) having at least 75% identity to the sequence SEQ ID NO: 1, wherein the variant has at least one mutation selected from the group consisting of the substitution N308K and the substitution A313S relative to the sequence SEQ ID NO: 1, for use in preventing and / or treating non-alcoholic fatty liver disease (NAFLD).
2. The nucleic acid molecule according to claim 1, wherein The nucleic acid molecule is a sequence selected from the group consisting of SEQ ID NO:6, SEQ ID NO:7 and SEQ ID NO:
8.
3. An isolated polypeptide encoded by the nucleic acid molecule according to claim 1, for use in preventing and / or treating NAFLD.
4. The isolated polypeptide according to claim 3, wherein The polypeptide is a sequence selected from the group consisting of SEQ ID NO: 2, SEQ ID NO: 3 and SEQ ID NO:
4.
5. A vector comprising the isolated nucleic acid molecule according to claim 1, for use in preventing and / or treating NAFLD.
6. The carrier according to claim 5, wherein The vector is a viral vector, in particular an adeno-associated viral vector (AAV), an exosome-associated AAV vector (exo-AAV), an exosome, an adenoviral vector, a retroviral vector or a herpes virus vector.
7. A suspension comprising the vector according to claim 5, for use in preventing and / or treating NAFLD.
8. A cell expressing the polypeptide for use according to claim 3, said cell preferably being transfected with the isolated nucleic acid molecule for use according to claim 1, or being transfected with the vector for use according to claim 5, for use in preventing and / or treating NAFLD.
9. A pharmaceutical composition comprising (i) the isolated nucleic acid molecule according to claim 1, or the isolated polypeptide according to claim 3, or the vector according to claim 5, and (ii) a pharmaceutically acceptable excipient, for use in preventing and / or treating NAFLD.
10. The isolated nucleic acid molecule for use according to claim 1, the isolated polypeptide for use according to claim 3, the vector for use according to claim 5, the suspension for use according to claim 7, the cell for use according to claim 8 or the pharmaceutical composition for use according to claim 9, for use in preventing and / or treating stage 1 or stage 2 of NAFLD.
11. The isolated nucleic acid molecule, isolated polypeptide, vector, suspension, cell or pharmaceutical composition according to claim 10, for use in preventing and / or treating stage 1 of NAFLD.
12. The isolated nucleic acid molecule, isolated polypeptide, vector, suspension, cell or pharmaceutical composition according to claim 10, for use in preventing and / or treating stage 2 of NAFLD.
13. The isolated nucleic acid molecule, isolated polypeptide, vector, suspension, cell or pharmaceutical composition according to claim 12, wherein NASH is stage 1.
14. The isolated nucleic acid molecule, isolated polypeptide, vector, suspension, cell or pharmaceutical composition according to claim 12, wherein NASH is stage 2.
15. The isolated nucleic acid molecule, isolated polypeptide, vector, suspension, cell or pharmaceutical composition according to claim 12, wherein NASH is stage 3.
16. A method for preventing and / or treating non-alcoholic fatty liver disease (NAFLD), comprising administering to a patient in need thereof a therapeutically effective amount of: an isolated nucleic acid molecule encoding a variant of sirtuin 6 (SIRT6) having at least 75% identity to the sequence SEQ ID No: 1, wherein the variant has at least one mutation selected from the group consisting of substitution N308K and substitution A313S relative to the sequence SEQ ID NO: 1; or an isolated polypeptide encoded thereby; or a pharmaceutical composition comprising the same.
17. The method according to claim 16, wherein The disease is stage 1 or 2 of NAFLD.
18. The method according to claim 16, wherein The isolated nucleic acid molecule is included in a vector, preferably a viral vector, more preferably an adeno-associated viral vector (AAV), an exosome-associated AAV vector (exo-AAV), an exosome, an adenoviral vector, a retroviral vector or a herpes virus vector.
19. The method of claim 16, further comprising administering an additional therapeutic agent to the patient.
20. Use of an isolated nucleic acid molecule in the preparation of a pharmaceutical composition for preventing and / or treating non-alcoholic fatty liver disease (NAFLD), wherein the isolated nucleic acid molecule encodes a variant of sirtuin 6 (SIRT6) having at least 75% identity with the sequence SEQ ID No: 1, and the variant has at least one mutation selected from the group consisting of substitution N308K and substitution A313S relative to the sequence SEQ ID NO:
1.
21. The use according to claim 20, wherein NAFLD is stage 1 or 2.
Citation Information
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