Gene therapy for lemd2 cardiomyopathy
AssigneeBoard of Regents, The University of Texas System
InventorsEric N. OLSON, Xurde Menendez CARAVIA
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Abstract
Provided herein are composition and methods for gene therapy of LEM domain-containing protein 2 (LEMD2) cardiomyopathy. Viral vectors are used to deliver LEMD2 reading frame for gene augmentation in cardiac cells that harbor loss-of-function LEMD2 mutations. A murine model for LEMD2 cardiomyopathy is also described.
Claims36
An expression construct comprising a coding region for LEM domain-containing protein 2 (LEMD2) under the control of a heterologous promoter.
(canceled)
A knock-in mouse comprising T38>G mutation in the LEM domain-containing protein 2 (LEMD2).
A method of making a knock-in mouse strain comprising contacting a murine cell with Cas9, guide RNA (gRNA) targeting LEM domain-containing protein 2 (LEMD2) sequence and a single-stranded oligonucleotide (ssODN) template containing a thymine to guanine (G) substitution in nucleotide 38 (c.T38>G) within codon 13 of the coding region of LEMD2, yielding a leucine to arginine substitution in Lemd2 mouse endogenous gene.
Dependencies are inferred from the claim text.