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In-vitro Mutagenesis

In-vitro Mutagenesis

To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.

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Efficient PAM-Less Base Editing for Zebrafish Modeling of Human Genetic Disease with zSpRY-ABE8e

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In vivo base editing rescues ADPKD in a humanized mouse model.

Alice Shasha Cheng^1,2, Linda Xiaoyan Li^1,2, Julie Xia Zhou^1,2

¹Department of Internal Medicine, Mayo Clinic, Rochester, MN, USA.

Nature Communications

|December 11, 2025

Summary

Adenine base editor (ABE9) delivered by adeno-associated virus (AAV9) shows promise for treating autosomal dominant polycystic kidney disease (ADPKD). A single dose corrected the genetic defect in mice, delaying cyst growth and improving survival, supporting potential single-dose gene therapies for ADPKD.

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Adeno-Associated Virus-Mediated Delivery of CRISPR for Cardiac Gene Editing in Mice

Adeno-Associated Virus-Mediated Delivery of CRISPR for Cardiac Gene Editing in Mice

Published on: August 2, 2018

Area of Science:

Genetics
Molecular Biology
Gene Therapy

Background:

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder causing kidney cysts and complications.
Adeno-associated virus (AAV)-delivered CRISPR-Cas9 gene editing offers a novel therapeutic approach for inherited diseases.
In vivo application of gene editing for kidney diseases presents challenges.

Purpose of the Study:

To adapt adenine base editor (ABE9) for in vivo gene editing in ADPKD.
To develop and test broadly expressed and kidney-specific ABE9 systems delivered via AAV9.
To evaluate the therapeutic potential of ABE9 in a preclinical ADPKD mouse model.

Main Methods:

Developed dual ABE9 systems with broadly expressed and kidney-specific promoters.
Delivered ABE9 systems using adeno-associated virus serotype 9 (AAV9) in humanized Pkd1^RC/RC mice.
Assessed gene correction, cyst development, extrarenal complications, and survival rates post-treatment.

Main Results:

A single dose of broadly expressed ABE9-AAV9 corrected the Pkd1 mutation in kidneys, hearts, and livers, delaying cyst growth and reducing cardiac hypertrophy.
Kidney-specific ABE9-AAV9 corrected the mutation solely in the kidneys, also delaying cyst growth.
Both ABE9 delivery methods significantly increased the survival rate in Pkd1^RC/null mice.

Conclusions:

Single-dose adenine base editor therapy delivered by AAV9 is a promising strategy for preventing ADPKD.
Targeted gene editing using kidney-specific promoters can mitigate off-target organ effects.
This approach supports the potential for single-dose genetic therapies for ADPKD in clinical settings.