ZFYVE26 Gene Mutation Detection for Hereditary Spastic Paraplegia Diagnosis
Find Innovative SolutionsGenerate Solutions
Solution Overview
Problem
Current diagnostic methods for hereditary spastic paraplegias (HSP) lack effective tools for identifying mutations in the ZFYVE26 gene, which are associated with Autosomal Recessive Hereditary Spastic Paraplegia (AR-HSP), leading to delayed or inaccurate diagnosis and inadequate genetic counseling.
Innovation Solution
The identification of mutations in the ZFYVE26 gene, including specific substitutions, deletions, insertions, and complex rearrangements, using ex vivo methods, isolated nucleic acids, and monoclonal or polyclonal antibodies to detect truncated forms of the spastizin protein, enabling precise diagnosis and genetic counseling.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If current diagnostic methods are used for HSP, then diagnosis can be performed with existing tools, but identification of ZFYVE26 gene mutations is not possible leading to delayed or inaccurate diagnosis
Solution Approach 1:
The diagnostic approach is segmented into multiple specific detection methods targeting different types of ZFYVE26 mutations (substitutions, deletions, insertions, complex rearrangements). Each detection method is optimized for specific mutation types, enabling comprehensive and accurate identification that was not possible with previous general diagnostic tools.
2Reliability
If ex vivo methods and specific antibodies are used to detect truncated spastizin protein forms, then precise diagnosis is enabled, but diagnostic complexity and required resources increase
Solution Approach 1:
Monoclonal and polyclonal antibodies serve as intermediaries that specifically recognize and bind to truncated forms of the spastizin protein. These antibodies enable detection of mutation-induced protein changes without requiring direct genetic analysis, thereby improving diagnostic reliability while using well-established immunological techniques.
3Loss of information
If comprehensive mutation screening is performed in ZFYVE26 gene, then accurate genetic counseling is possible, but time and resource requirements increase
Solution Approach 1:
The patent establishes a comprehensive mutation spectrum and diagnostic protocol in advance, identifying all relevant mutation types (substitutions, deletions, insertions, complex rearrangements) and their locations in the ZFYVE26 gene. This preliminary characterization enables rapid and accurate screening without requiring de novo analysis for each patient, reducing diagnostic time while maintaining completeness.
Data Source
Figure 1
Figure 1
Figure 2A~2C
AI summary
The Invention relates to an ex vivo method of diagnosing or predicting a hereditary spastic paraplegias (HSP), in a subject, which method comprises detecting a mutation in the ZFYVE26 gene or protein (spastizin), wherein said mutation is indicative of a hereditary spastic paraplegias (HSP).