MSA Gene Expression Profiling for Early Diagnosis and Targeted Therapy
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Solution Overview
Problem
There are no effective long-term therapeutic options for multiple-system atrophy (MSA), a rare neurodegenerative disorder, and current diagnostic methods are time-consuming and inefficient, often relying on the elimination of other conditions before reaching a definitive diagnosis.
Innovation Solution
The method involves determining the expression levels of specific genes (QKI, GGCX, MOCS1, NF1, LINC01572, PRRG3, HMBOX1, PLP1, PPP1CA, C8orf88, TGFB2, MASP1, TIAM1, SYNGAP1, ACTN1, EMP1, NFIL3, GPNMB, PGAM2, ST5, STON1, RFTN1, ACTN1, and MMP14) in a subject-derived biological sample, comparing them to normal controls, and administering peroxisome proliferator-activated receptor β (PPARβ) agonists and/or retinoid X receptor (RXR) agonists for targeted treatment.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If current diagnostic methods are used to diagnose MSA, then a definitive diagnosis can be obtained, but the diagnostic process is time-consuming and inefficient
Solution Approach 1:
The patent applies preliminary action by measuring gene expression levels (QKI, GGCX, MOCS1, NF1, LINC01572, PRRG3, HMBOX1, PLP1, PPP1CA, C8orf88, TGFB2, MASP1, TIAM1, SYNGAP1, ACTN1, EMP1, NFIL3, GPNMB, PGAM2, ST5, STON1, RFTN1, MMP14) in biological samples before proceeding to full diagnostic evaluation. This preliminary genetic screening allows for early identification of MSA patients, differentiating them from other synucleinopathies, and enables timely administration of PPARβ and RXR agonists to slow disease progression.
2Reliability
If no therapeutic intervention is provided, then the natural course of MSA progresses, but there are no effective long-term therapeutic options available
Solution Approach 1:
The patent applies preliminary action by administering PPARβ agonists and/or RXR agonists to subjects with MSA to slow disease progression. This early therapeutic intervention targets the underlying molecular mechanisms of MSA, potentially extending survival time and improving disease outcomes before irreversible neurodegeneration occurs.
Solution Approach 2:
The patent applies parameter changes by modifying the expression or activity of specific genes (QKI, GGCX, MOCS1, NF1, LINC01572, PRRG3, HMBOX1, PLP1, PPP1CA, C8orf88, TGFB2, MASP1, TIAM1, SYNGAP1, ACTN1, EMP1, NFIL3, GPNMB, PGAM2, ST5, STON1, RFTN1, MMP14) through pharmacological intervention with PPARβ and RXR agonists. This changes the molecular parameters of disease progression, potentially slowing or modifying the natural course of MSA.
Data Source
AI summary
The present disclosure relates to a method for diagnosing and treating multiple-system atrophy (MSA) in a subject, the method comprising: determining in a subject-derived biological sample an expression level of a gene from the group consisting of: QKI, GGCX, MOCS1, NF1, LINC01572, PRRG3, HMBOX1, PLP1, PPP1CA, C8orf88, TGFB2, MASP1, TIAM1, SYNGAP1, ACTN1, EMP1, NFIL3, GPNMB, PGAM2, ST5, STON1, RFTN1, and MMP14; comparing the subject-derived expression level of the gene with a normal control expression level of the gene obtained from a non-neurodegenerative biological sample; diagnosing the subject as a having MSA by detecting a differential expression of the gene in the subject-derived biological sample as compared to the normal control expression level; and administering a peroxisome proliferator-activated receptor β (PPARβ) agonist or a retinoid X receptor (RXR) agonist to the subject diagnosed as having MSA.