US 2019/0282670 A1 · COMPOSITIONS COMPRISING A LECITHIN CHOLESTEROL ACYLTRANSFERASE VARIANT AND USES THEREOF

Abstract

A synthetic or recombinant human lecithin cholesterol acyltransferase (LCAT) variant is provided which comprises an LCAT enzyme having a substitution at position 114 based on the residue numbering of wild-type (WT) human LCAT [SEQ ID NO:1], wherein said variant is characterized by one or more of: (i) an esterification rate higher than the esterification rate of WT human LCAT; and/or (ii) an association with higher density lipoprotein levels as compared to subjects having WT LCAT. Also provided are vectors encoding the variant, compositions containing same, and methods of using the variant proteins and vectors for treatment of a variety of disorders associated with defective wt LCAT.

Claims28

Dependent claims

A recombinant viral vector which comprises an expression cassette comprising:

(a) a nucleic acid coding sequence for a synthetic or recombinant human lecithin cholesterol acyltransferase (LCAT) variant comprising:
an amino acid substitution at amino acid residue position 114 based on the residue numbering of wt normal LCA, wherein said variant is characterized by one or more of:
(i) an esterification rate higher than the esterification rate of WT human LCAT;
(ii) an association with higher density lipoprotein levels as compared to subjects having WT LCAT;
and
(b) regulatory sequences which direct expression of the LCAT variant in a host cell, said regulatory sequences being operably linked to the LCAT coding sequence.

3 more elements

Dependencies are inferred from the claim text.

Compositions comprising a lecithin cholesterol acyltransferase variant and uses thereof

Life of this patent

Compositions comprising a lecithin cholesterol acyltransferase variant and uses thereof

Life of this patent

Abstract

Claims28