rAAV Neuroligin-2 Vector Modulates Inhibitory Synapses for Epilepsy

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Solution Overview

Problem

Current treatments for epilepsy, particularly intractable cases, often have limited effectiveness and are associated with significant side effects, and there is a need for a more straightforward and less invasive therapeutic approach that can target the underlying neural mechanisms of the disease.

Innovation Solution

A recombinant adeno-associated virus (rAAV) vector encoding the neuroligin 2 protein is developed to enhance the inhibitory synaptic function, which is administered intracerebrally, intrathecally, or peripherally to improve epilepsy symptoms by modulating neural activity.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If pharmacotherapy using antiepileptic drugs is used for intractable epilepsy, then seizure suppression may be achieved, but significant side effects occur and treatment effectiveness is limited

Engineering Contradiction:
Improvetreatment effectivenessVSAvoidside effects
Core Design Contradiction:
ReliabilityVSObject-affected harmful factors

Solution Approach 1:

The patent uses adeno-associated virus (AAV) as a viral vector to deliver the neuroligin-2 gene directly to neuronal cells in the brain. This intermediary approach allows precise targeted delivery of therapeutic protein to specific brain regions, achieving seizure suppression without the systemic side effects associated with conventional antiepileptic drugs.

Inventive Principle:
Principle #24Intermediary (Mediator)

Solution Approach 2:

The patent employs self-complementary AAV (scAAV) vectors that can directly translate their single-stranded DNA genome into functional neuroligin-2 protein without requiring host cell replication machinery. This self-service mechanism enables rapid and efficient protein expression in neuronal cells, achieving therapeutic effect with a single administration and avoiding the need for repeated dosing.

Inventive Principle:
Principle #25Self-service

2Reliability

If surgical treatment such as temporal lobectomy is performed for intractable epilepsy, then seizure control may be improved, but memory retention decreases when bilateral hippocampi are excised

Engineering Contradiction:
Improveseizure controlVSAvoidmemory loss
Core Design Contradiction:
ReliabilityVSObject-generated harmful factors

Solution Approach 1:

The patent employs stereotaxic injection to deliver the AAV-neuroligin-2 vector to specific seizure focus regions in the brain. This localized delivery approach allows therapeutic intervention precisely at the site of abnormal neuronal activity, achieving seizure control without affecting other brain regions responsible for memory function, thus avoiding the cognitive side effects of bilateral hippocampal resection.

Inventive Principle:
Principle #3Local quality

3Adaptability or versatility

If rAAV vector expressing neuroligin 2 is administered to overexpress NLGN2, then inhibitory synaptic transmission is altered and social behavior changes, but the specific therapeutic effect on epilepsy is not demonstrated

Engineering Contradiction:
Improvesynaptic function modulationVSAvoiddisease treatment efficacy
Core Design Contradiction:
Adaptability or versatilityVSReliability

Solution Approach 1:

The patent utilizes the dynamic properties of self-complementary AAV vectors that enable direct translation of the viral genome into functional neuroligin-2 protein upon infection. This dynamic expression mechanism allows rapid modulation of inhibitory synaptic transmission in the seizure focus region, demonstrating both synaptic adaptability and specific antiepileptic therapeutic effect in animal models.

Inventive Principle:
Principle #15Dynamics

Data Source

PatentEP3403675B1Adeno-associated virus virion for use in treatment of epilepsy
Publication Date: 2021.04.21 GENE THERAPY RES INSTION CO LTD
  • EP3403675B1 patent drawingFigure 1a~2
  • EP3403675B1 patent drawingFigure 3~4
  • EP3403675B1 patent drawingFigure 5~6

AI summary

Provided is a novel gene therapy means for neurological diseases including epilepsy. The present invention provides: a recombinant adeno-associated virus vector for use in the treatment of neurological diseases including epilepsy, which comprises a polynucleotide encoding a protein capable of improving the excitation-inhibiting function of an inhibitory synapse in vivo, preferably neuroligin-2 protein; a pharmaceutical composition comprising said recombinant vector; and others. The present invention also provides a method for treating a disease such as epilepsy using the recombinant vector.