OPTN Gene Mutation Detection for ALS Diagnosis
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Solution Overview
Problem
Current methods are inadequate for diagnosing and treating amyotrophic lateral sclerosis (ALS), particularly for sporadic cases, and there is a need for effective genetic diagnosis and therapeutic agents, as well as suitable animal and cell models for developing treatments.
Innovation Solution
A diagnosis marker and method focusing on mutations in the human chromosome 10 OPTN gene regions, specifically detecting mutations at positions 13207995 and 13214104, along with therapeutic agents that induce read-through of these mutations, inhibit NF-κB activation, and compensate for OPTN localization issues, and the creation of animal and cell models incorporating these mutations.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If conventional genetic diagnosis methods are used for ALS, then inherited cases can be partially diagnosed, but sporadic cases remain undiagnosed and diagnostic coverage is limited
Solution Approach 1:
The invention changes the parameter of genetic analysis from examining only known inherited ALS genes (SOD1, TDP-43, FUS) to examining a broader range of parameters including the OPTN gene and haplotype structures. This parameter expansion enables detection of sporadic ALS cases that were previously undiagnosed, thereby improving diagnostic coverage while maintaining applicability across both inherited and sporadic cases.
2Reliability
If therapeutic agents are developed without specific genetic markers, then general treatment approaches can be used, but treatment effectiveness is insufficient for targeted therapy
Solution Approach 1:
The invention performs preliminary genetic analysis to identify specific mutations and haplotype structures in the OPTN gene before administering therapeutic agents. This preliminary action of genetic screening enables subsequent targeted therapy selection, thereby improving treatment effectiveness. The complexity is managed by focusing on specific predefined mutation sites and haplotype patterns rather than进行全面 genomic analysis.
3Productivity
If animal models are created without specific gene mutations, then general ALS symptoms can be studied, but therapeutic agent development efficiency is reduced
Solution Approach 1:
The invention creates animal models with specific local genetic modifications - introducing particular OPTN gene mutations and haplotype structures at defined locations in the animal genome. This local quality approach enables the models to specifically replicate human ALS genetic characteristics, thereby improving therapeutic agent development efficiency. The complexity is concentrated in the specific mutation introduction rather than comprehensive genomic reconstruction.
Data Source
AI summary
Provided are a diagnosis marker, a diagnosis method, and a therapeutic agent suitable for diagnosing and treating amyotrophic lateral sclerosis (ALS). Also provided are an animal model and a cell model suitable for developing a therapeutic agent and a treatment method for ALS. The diagnosis method for ALS includes: an isolation step in which a nucleic acid is isolated from a specimen taken from a subject; a detection step in which bases expressed in a human chromosome 10 optineurin (OPTN) gene region are detected from the isolated nucleic acid; and a determination step in which it is determined whether or not the detected bases are mutated.