PRPS1 Gene Mutation Diagnosis and Treatment for Peripheral Neuropathy
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Solution Overview
Problem
Current treatments for medication-induced acquired peripheral neuropathy, sensorineural hearing loss, and optic neuropathy are ineffective, and there is a need for a therapeutic target to address the underlying metabolic enzyme dysfunction causing these conditions.
Innovation Solution
The use of a mutated PRPS1 gene and protein as a therapeutic target to diagnose and treat peripheral neuropathy by modulating its activity, which is critical for purine metabolism and nucleotide biosynthesis, and developing a screening system for drug candidates that can increase or decrease its activity.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If current treatments are used for medication-induced acquired peripheral neuropathy, then treatment is provided, but the treatments are ineffective
Solution Approach 1:
The invention segments the therapeutic approach by identifying specific mutations in the PRPS1 gene (such as c.344T>C, c.129A>C, c.409G>A, c.695G>A) as distinct therapeutic targets. This allows for targeted diagnosis and treatment strategies rather than using general neuropathy treatments, thereby improving treatment effectiveness for this specific genetic subtype.
Solution Approach 2:
The invention changes the diagnostic parameter from general neuropathy screening to specific PRPS1 gene mutation detection. By identifying patients with specific PRPS1 mutations, the treatment approach can be tailored to modulate PRPS1 enzyme activity, fundamentally changing the therapeutic parameter from symptomatic management to disease-modifying treatment.
2Measurement precision
If PRPS1 gene mutation is used as a therapeutic target, then diagnosis and treatment of peripheral neuropathy is enabled, but current treatments remain ineffective for this genetic subtype
Solution Approach 1:
The invention performs preliminary identification of PRPS1 gene mutations before treatment initiation. By screening for specific mutations (c.344T>C, c.129A>C, c.409G>A, c.695G>A) in advance, the system enables early diagnosis and allows selection of appropriate therapies that modulate PRPS1 activity, preventing progression rather than treating established damage.
Solution Approach 2:
The PRPS1 gene mutation status serves as an intermediary biomarker that connects diagnosis to targeted therapy. The mutation detection acts as a mediator that identifies which patients will respond to PRPS1-modulating treatments, bridging the gap between general neuropathy diagnosis and specific effective therapies for this genetic subtype.
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
The mutated PRPS1 protein allows for the diagnosis and potential treatment of acquired peripheral neuropathy, sensorineural hearing loss, and optic neuropathy by targeting the enzyme's decreased activity, providing a novel approach to managing these conditions.
Implementation Method 1
phosphoribosyl pyrophosphate synthetase 1 (PRPS1)...a metabolic enzyme critical for purine metabolism and nucleotide biosynthesis
Data Source
AI summary
Disclosed is a gene mutation associated with peripheral neuropathy associated with sensorineural hearing loss and optic neuropathy. More specifically, disclosed are: a polynucleotide comprising a mutation associated with peripheral neuropathy associated with sensorineural hearing loss and optic neuropathy, or a complementary polynucleotide thereof; a polynucleotide which hybridizes with said polynucleotide; a polypeptide which is encoded by said polynucleotide; an antibody which binds to said polypeptide; and a microarray chip and a kit, which comprise said polynucleotide. Also disclosed are a method for diagnosing a syndrome of peripheral neuropathy associated with sensorineural hearing loss and optic neuropathy, a method for detecting the mutation, and a method for screening drugs for treating these diseases.