RdCVF Expression Vector Signal Peptide Optimization

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Solution Overview

Problem

The challenge lies in achieving efficient and effective expression and secretion of rod-derived cone viability factor (RdCVF) for treating ocular diseases, particularly retinitis pigmentosa, as existing methods face difficulties in large-scale recombinant expression and delivery due to post-translational events affecting protein levels and secretion pathways.

Innovation Solution

The use of an expression vector comprising a RdCVF-encoding nucleotide sequence with an insulin growth factor-1 signal peptide and a furin cleavage consensus sequence, along with an exogenous signal peptide such as human growth hormone or brain-derived neurotrophic factor, to enhance secretion and therapeutic delivery of RdCVF, utilizing mammalian cells and viral vectors like AAV for intraocular administration.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If RdCVF is expressed using native signal peptide sequences, then the protein structure is preserved, but secretion efficiency is insufficient

Engineering Contradiction:
Improveprotein structure integrityVSAvoidsecretion efficiency
Core Design Contradiction:
ReliabilityVSProductivity

Solution Approach 1:

The patent uses heterologous signal peptide sequences from IGF-1, hGH, BDNF, or GUSB as intermediary elements to replace the native RdCVF signal peptide. These intermediary signal peptides act as mediators that redirect the RdCVF protein through more efficient secretory pathways, thereby improving secretion efficiency while maintaining the functional integrity of the mature RdCVF protein after signal peptide cleavage.

Inventive Principle:
Principle #24Intermediary (Mediator)

2Quantity of substance

If large-scale recombinant expression is attempted, then production volume increases, but post-translational events reduce protein levels

Engineering Contradiction:
Improveproduction volumeVSAvoidprotein expression levels
Core Design Contradiction:
Quantity of substanceVSReliability

Solution Approach 1:

The patent changes the critical parameter of signal peptide sequence to optimize protein secretion at large scale. By substituting the native signal peptide with heterologous signal peptides from IGF-1, hGH, BDNF, or GUSB, the system achieves improved recognition by the secretory pathway machinery, thereby maintaining high protein expression levels even during large-scale recombinant production.

Inventive Principle:
Principle #35Parameter changes

3Measurement precision

If gene therapy vector delivery is used, then targeted delivery to retina is achieved, but therapeutic protein levels are insufficient

Engineering Contradiction:
Improvedelivery targeting accuracyVSAvoidtherapeutic protein levels
Core Design Contradiction:
Measurement precisionVSQuantity of substance

Solution Approach 1:

The patent employs heterologous signal peptides as intermediary elements within the gene therapy vector construct. These intermediary signal peptides enhance the secretion efficiency of RdCVF from transduced retinal cells, thereby increasing the quantity of therapeutic protein delivered to the target tissue while maintaining the precise targeting capability of the AAV vector system.

Inventive Principle:
Principle #24Intermediary (Mediator)

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 improves the secretion and therapeutic efficacy of RdCVF, enabling effective treatment of ocular diseases by ensuring higher levels of RdCVF protein expression and secretion, thereby supporting cone photoreceptor survival and visual function.

Implementation Method 1

Secreted proteins comprise a signal peptide, which is recognized during translation by the signal recognition pathway

Methodology Applied
Scientific EffectSignal recognition pathway:

Implementation Method 2

Subsequently, the signal peptide is cleaved by a membrane -bound signal peptidase and the mature secreted protein enters a secretory vesicle

Methodology Applied
Scientific EffectProteolytic cleavage: Enzyme

Data Source

PatentEP2281047B1Methods to produce rod-derived cone viability factor (RDCVF)
Publication Date: 2020.04.08 GENZYME CORP
  • EP2281047B1 patent drawingFigure 1
  • EP2281047B1 patent drawingFigure 2
  • EP2281047B1 patent drawingFigure 3

AI summary

The invention is related to methods of producing rod-derived cone viability factor (RdCVF). This invention also relates to the treatment of an ocular disease in a mammal using RdCVF. Also provided are expression vectors for high secreted expression of RdCVF of using nucleotide sequences encoding heterologous signal proteins and optionally markers for furin cleavage.