AAV Capsid Mutations Enhance Tissue Targeting

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Solution Overview

Problem

Current AAV vectors exhibit poor gene transfer efficiency in major target tissues, limiting their effectiveness for gene therapy and research applications.

Innovation Solution

Development of novel AAV variants with distinct tissue targeting capabilities, including AAV3B variants that specifically target human hepatocytes and heart tissue, achieved through amino acid variations in capsid proteins and the use of recombinant AAVs with specific transgenes for gene delivery.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If conventional AAV vectors are used for gene delivery, then safety profile is maintained, but gene transfer efficiency in major target tissues is poor

Engineering Contradiction:
Improvegene transfer efficiencyVSAvoidtransduction effectiveness
Core Design Contradiction:
ReliabilityVSProductivity

Solution Approach 1:

The patent applies parameter changes by modifying the amino acid sequence of the AAV capsid protein through site-directed mutagenesis. Specific amino acid substitutions (e.g., K296E, K296Q, K296R, K296M) were introduced to alter the capsid's tissue tropism properties, enabling enhanced transduction of cardiac and skeletal muscle tissues while maintaining the safety profile of AAV vectors

Inventive Principle:
Principle #35Parameter changes

Solution Approach 2:

The patent applies local quality by creating capsid variants with specific localized amino acid modifications at position 296. This targeted modification approach allows the capsid to maintain its overall structure and safety properties while acquiring enhanced local affinity for muscle tissue receptors, thereby improving gene transfer efficiency specifically in cardiac and skeletal muscle without affecting other tissues

Inventive Principle:
Principle #3Local quality

2Adaptability or versatility

If AAV vectors are engineered for specific tissue targeting, then tissue tropism is enhanced, but vector complexity increases

Engineering Contradiction:
Improvetissue targeting capabilityVSAvoidcapsid engineering complexity
Core Design Contradiction:
Adaptability or versatilityVSDevice complexity

Solution Approach 1:

The patent applies local quality by introducing a single point mutation at amino acid position 296 of the capsid protein. This localized modification strategy enables specific tissue targeting capability while minimizing the increase in vector complexity, as only one amino acid position was altered rather than extensive engineering of the entire capsid structure

Inventive Principle:
Principle #3Local quality

Solution Approach 2:

The patent applies parameter changes by systematically testing different amino acid substitutions at position 296 (E, Q, R, M) to optimize tissue targeting. This approach allows for precise tuning of the capsid's interaction with tissue receptors, achieving enhanced adaptability through simple parameter modification rather than complex structural redesign

Inventive Principle:
Principle #35Parameter changes

Data Source

PatentEP3209311B1Recombinant AAV variants and uses thereof
Publication Date: 2024.03.06 UNIV OF MASSACHUSETTS
  • EP3209311B1 patent drawingFigure 1
  • EP3209311B1 patent drawingFigure 1
  • EP3209311B1 patent drawingFigure 1

AI summary

The disclosure in some aspects relates to recombinant adeno-associated viruses having distinct tissue targeting capabilities. In some aspects, the disclosure relates to gene transfer methods using the recombinant adeno-associated viruses. In some aspects, the disclosure relates to isolated AAV capsid proteins and isolated nucleic acids encoding the same.