Genetically Encodable Guide RNA for Endogenous ADAR2 Recruitment

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Solution Overview

Problem

Existing methods for introducing targeted point mutations into RNA using ADAR enzymes are inefficient as they require modified enzymes and guide RNAs with chemically altered nucleotides, necessitating in vitro production and transfection, which is not genetically encodable or cost-effective.

Innovation Solution

Designing genetically encodable guide RNAs with specific nucleotide segments that recruit endogenous ADAR enzymes to introduce targeted point mutations, allowing for efficient and reversible editing of RNA without altering the coding gene, using endogenous enzymes to introduce point mutations directly into RNA.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Manufacturing precision

If modified ADAR enzymes with SNAP tag or In peptide are used to direct enzyme activity to new substrates, then targeted RNA editing can be achieved, but the device complexity increases and endogenous enzymes cannot be utilized

Engineering Contradiction:
Improvetargeted RNA editing precisionVSAvoidenzyme structure complexity
Core Design Contradiction:
Manufacturing precisionVSDevice complexity

Solution Approach 1:

The invention extracts and utilizes the endogenous ADAR2 enzyme's natural deaminase domain, separating it from the need for complex modifications like SNAP tags or In peptides. The guide RNA alone directs the naturally occurring enzyme to target substrates, simplifying the overall system while maintaining editing precision.

Inventive Principle:
Principle #2Taking out (Extraction)

Solution Approach 2:

The invention enables the cell's own endogenous ADAR2 enzymes to perform the editing function without requiring exogenous modified enzymes. The guide RNA recruits the cell's natural enzymes to carry out the targeted deamination, making the system self-sufficient and reducing complexity.

Inventive Principle:
Principle #25Self-service

2Reliability

If guide RNA contains chemically altered nucleotides such as benzylguanine, then guide RNA can be activated and bind to enzyme, but the guide RNA cannot be genetically encodable and requires in vitro production

Engineering Contradiction:
Improveguide RNA binding reliabilityVSAvoidguide RNA production ease
Core Design Contradiction:
ReliabilityVSEase of manufacture

Solution Approach 1:

The invention changes the nucleotide composition parameters of the guide RNA to use only naturally occurring, genetically encodable nucleotides. This allows the guide RNA to be transcribed directly from DNA templates in living cells, eliminating the need for complex in vitro chemical synthesis while maintaining binding reliability through optimized sequence design.

Inventive Principle:
Principle #35Parameter changes

3Manufacturing precision

If chemically altered nucleotides are used in guide RNA, then enzyme binding can be achieved, but transfection into cells is required which reduces efficiency

Engineering Contradiction:
ImproveRNA editing precisionVSAvoidediting efficiency
Core Design Contradiction:
Manufacturing precisionVSProductivity

Solution Approach 1:

The system uses endogenous ADAR2 enzymes already present in the cell, eliminating the need for transfection of modified enzymes. The guide RNA, being genetically encodable, can also be delivered via simpler methods or expressed from integrated DNA, significantly improving delivery efficiency while maintaining editing precision.

Inventive Principle:
Principle #25Self-service

4Productivity

If endogenous ADAR2 enzymes are used with genetically encodable guide RNAs, then the method becomes cost-effective and efficient, but the guide RNA structure must be precisely designed

Engineering Contradiction:
Improveediting productivityVSAvoidguide RNA structure complexity
Core Design Contradiction:
ProductivityVSDevice complexity

Solution Approach 1:

The guide RNA is divided into functionally distinct segments: a deaminase recruitment element (DRE) that binds ADAR2, a spacer region for structural stability, and a target-complementary region for specific mRNA binding. This segmentation allows each element to be optimized independently, achieving high productivity while managing structural complexity through modular design.

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The guide RNA structure incorporates universal elements that work across different target sequences. The DRE and spacer regions provide universal structural and functional properties, while only the target-complementary segment needs to be customized, reducing overall design complexity while maintaining high editing productivity for various targets.

Inventive Principle:
Principle #6Universality (Multi-functionality)

Applied Scientific Principles

This section explains which scientific principles are used to turn an abstract innovation direction into a practical engineering solution.

Function Achieved in This Case

This approach enables precise and efficient introduction of point mutations, reducing the need for exogenous proteins and chemical synthesis, enhancing therapeutic potential by using endogenous enzymes, particularly in neuronal tissues, with the ability to treat multigenetic diseases and neuronal disorders.

Implementation Method 1

The H and I segments are designed to pair with the target mRNA and place the target base to be edited in an A:C mismatch

Methodology Applied
Scientific EffectBase pairing:

Implementation Method 2

The nucleoside adenosine can be enzymatically deaminated. This produces inosine, which is read during translation like guanosine

Methodology Applied
Scientific EffectDeamination:

Data Source

PatentEP3353299B1Methods and substances for directed RNA editing
Publication Date: 2020.03.04 EBERHARD KARLS UNIVERSITAET TUEBINGEN
  • EP3353299B1 patent drawingFigure 1~2
  • EP3353299B1 patent drawingFigure 3~4
  • EP3353299B1 patent drawingFigure 5~7

AI summary

The invention relates to methods and substances for the targeted alteration of genetic information on an RNA level. The substances are artificially produced guide RNAs, which are capable of recruiting endogenous editing enzymes, such as hADAR enzymes, in particular hADAR2 and hADAR1, in order to introduce targeted point mutations in selected mRNAs. The guide RNA consists of multiple segments and is constructed in such a way that individual nucleotides from different segments pair to form a double helix, and the nucleotides of a determined segment form a hairpin structure within the guide RNA. The invention also relates to the method for directed RNA editing, wherein the guide RNA is transfected into the cells in which the RNA editing is to be carried out. The substances and the method can be used for repairing individual, e.g. disease-relevant point mutations, such as those leading to premature stop signals. An advantage of the invention is that endogenous editing enzymes are also used in order to introduce targeted point mutations into the RNA. Only the short guide RNA, used for recruiting endogenous editing enzymes, must be artificially produced for each specific problem and ectopically expressed.