CYP46A1 Expression Vector for Spinocerebellar Ataxia Therapy

Resolve Bottlenecks,
Find Innovative SolutionsGenerate Solutions

Solution Overview

Problem

There is currently no effective cure for spinocerebellar ataxias (SCA), with treatments limited to managing symptoms, highlighting the need for new therapeutic strategies, particularly for polyglutamine repeat SCAs.

Innovation Solution

The use of a vector expressing cholesterol 24-hydroxylase (CYP46A1) to modulate cholesterol metabolism in the brain, with the aim of addressing the underlying neuronal dysfunction in polyglutamine repeat SCAs.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If traditional symptomatic treatment is used for polyglutamine repeat spinocerebellar ataxias, then treatment simplicity is maintained, but therapeutic effectiveness is insufficient

Engineering Contradiction:

Improvetherapeutic effectivenessVSAvoidtreatment complexity

Core Design Contradiction:

ReliabilityVSDevice complexity

Solution Approach 1:

The patent uses cholesterol 24-hydroxylase (CYP46A1) as a mediator substance to address the underlying cholesterol metabolism dysfunction in polyglutamine repeat SCAs. By introducing this enzyme via viral vectors, the treatment targets the root cause rather than just symptoms, improving therapeutic effectiveness while maintaining reasonable treatment complexity

Inventive Principle:

Principle #24Intermediary (Mediator)

Solution Approach 2:

The patent changes the biochemical parameter of cholesterol metabolism by overexpressing CYP46A1 enzyme. This modifies the metabolic state of target cells, converting cholesterol to 24S-hydroxycholesterol, thereby correcting the metabolic dysfunction associated with polyglutamine repeat SCAs and improving disease outcome

Inventive Principle:

Principle #35Parameter changes

2Reliability

If cholesterol metabolism modulation therapy is implemented, then therapeutic effectiveness is improved, but treatment complexity increases

Engineering Contradiction:

Improvetherapeutic effectivenessVSAvoidtreatment complexity

Core Design Contradiction:

ReliabilityVSDevice complexity

Solution Approach 1:

The patent employs self-service by using the body's own cellular machinery to deliver and express the CYP46A1 gene. Viral vectors transduce target cells, which then autonomously produce the therapeutic enzyme, eliminating the need for continuous external administration and reducing long-term treatment complexity

Inventive Principle:

Principle #25Self-service

Solution Approach 2:

The patent applies preliminary action by using viral vectors to deliver the CYP46A1 gene before significant neuronal damage occurs. This preventive approach establishes therapeutic effectiveness early in the disease course, reducing the complexity of managing advanced disease stages

Inventive Principle:

Principle #10Preliminary action

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

Delivering a vector encoding CYP46A1 into the brain significantly reduces neuronal dysfunction and cerebellar attacks in mouse models of polyglutamine repeat SCAs, improving motor coordination and alleviating neuropathology.

Implementation Method 1

a vector comprising cholesterol 24-hydroxylase encoding nucleic acid that expresses cholesterol 24-hydroxylase in the target cells

Methodology Applied

Scientific EffectEnzyme catalysis: Enzyme

Data Source

PatentUS20250090641A1Expression vector for cholesterol 24-hydrolase in therapy of polyglutamine repeat spinocerebellar ataxias

Publication Date: 2025.03.20 CENT DE NEUROCIENCIAS E BIOLOGIA CELULAR

AI summary

The present invention relates to a vector for use in the treatment of a polyglutamine repeat spinocerebellar ataxia, which vector comprises cholesterol 24-hydroxylase encoding nucleic acid.