Channel Protein Ion Permeation for Genetic Variant Pathogenicity

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Solution Overview

Problem

The complexity and variability of genetic variations associated with hereditary hearing loss across different ethnic groups complicate the determination of pathogenicity and inheritance patterns, requiring multiple experiments and leading to low efficiency in clinical diagnostics.

Innovation Solution

A clinical pathologic data-free computer-aided prediction system and method that utilizes molecular dynamics simulations, computing ion passage through wild-type and mutated channel proteins, and determining channel classes to predict pathogenic genetic variants and inheritance patterns without prior clinical data.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If multiple experiments are conducted to determine inheritance patterns of genetic variations, then the accuracy of pathogenicity determination is improved, but the time consumption and research efficiency deteriorate

Engineering Contradiction:

Improvepathogenicity determination accuracyVSAvoidresearch time consumption

Core Design Contradiction:

Measurement precisionVSLoss of time

Solution Approach 1:

The patent performs preliminary molecular dynamics simulations to predict the functional impact of genetic variations on channel protein structures before conducting actual inheritance pattern experiments. By pre-classifying variations into pathogenic and non-pathogenic groups based on simulated ion permeation effects, the system reduces the number of required experimental validations and accelerates the overall determination process while maintaining accuracy.

Inventive Principle:

Principle #10Preliminary action

2Adaptability or versatility

If traditional experimental methods are used to study genetic variations across different ethnic groups, then comprehensive data collection is achieved, but the complexity and uncertainty of research increase

Engineering Contradiction:

Improveethnic group coverageVSAvoidresearch complexity

Core Design Contradiction:

Adaptability or versatilityVSDevice complexity

Solution Approach 1:

The patent replaces complex wet-lab experimental systems with computational molecular dynamics simulation systems. By using in silico methods to model channel protein structures and predict their functional effects, the system eliminates the need for numerous physical experiments across different ethnic groups while maintaining comprehensive analytical coverage through virtual screening of genetic variations.

Inventive Principle:

Principle #28Mechanics substitution (Replace mechanical system)

3Measurement precision

If molecular dynamics simulations are performed on multiple mutated channel configurations, then the prediction accuracy of pathogenicity is improved, but the computational resources and time required increase

Engineering Contradiction:

Improvepathogenicity prediction accuracyVSAvoidcomputational resource consumption

Core Design Contradiction:

Measurement precisionVSUse of energy by stationary object

Solution Approach 1:

The patent segments the analysis by dividing mutated channel configurations into different classes based on their structural characteristics and predicted functional impacts. By classifying variations into pathogenic and non-pathogenic groups based on key structural parameters from molecular dynamics simulations, the system reduces the overall computational burden while maintaining high prediction accuracy through targeted analysis of critical structural features.

Inventive Principle:

Principle #1Segmentation

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

Enables efficient prediction of pathogenic genetic variants and inheritance patterns related to hereditary hearing loss based on computer-aided simulations, improving determination efficiency by evaluating ion permeation through channel proteins.

Implementation Method 1

performing molecular dynamics simulations on channel protein configurations

Methodology Applied

Scientific EffectMolecular dynamics simulation:

Data Source

PatentUS20260081030A1Clinical pathologic data-free and computer-aided prediction system for genetic variation pathogenicity and inheritance pattern thereof and method thereof, and ion selection system and method thereof

Publication Date: 2026.03.19 NAT TAIWAN UNIV HOSPITAL HSIN CHU BRANCH

AI summary

A clinical pathologic data-free and computer-aided prediction method for genetic variation pathogenicity and an inheritance pattern thereof includes a molecular dynamics (MD) simulation step, a computing step, a determination step, and a predicted result production step. The MD simulation step is to perform molecular modeling and computational simulations on channel protein configurations, where the channel protein configurations include a wild-type channel or mutated channels. The computing step is to compute the number of ions passing through the wild-type channel and the number of ions passing through the mutated channel, respectively to obtain a first ion number and a second ion number within a predetermined period. The determination step is to determine the class of each mutated channel according to the first ion number and the second ion number. The predicted result production step is to produce a predicted result according to the classes of the mutated channels.