Mitochondrial DNA Deletion Quantification for Cancer Detection
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Solution Overview
Problem
Current methods for detecting prostate and breast cancer lack effective markers for early detection and monitoring, relying on invasive procedures and limited diagnostic tools.
Innovation Solution
A method involving the detection of mitochondrial DNA (mtDNA) deletions between residues 12317 and 16254, using specific primers and reagents to quantify and monitor the 4 kb deletion in biological samples, providing a diagnostic kit for cancer detection and predisposition assessment.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Ease of operation
If traditional cancer detection methods are used, then diagnostic accuracy can be achieved, but invasive procedures and limited diagnostic tools are required
Solution Approach 1:
The patent uses mitochondrial DNA deletions as an intermediary biomarker to detect cancer. Instead of directly detecting cancer cells through invasive procedures, the method detects the presence of specific mtDNA deletions (such as the 4 kb deletion) in biological samples, which serves as a mediator indicator of cancer presence and progression.
Solution Approach 2:
The patent replaces mechanical invasive procedures with molecular detection methods. Instead of using physical biopsy or surgical intervention to obtain cancer tissue, the method uses PCR-based molecular techniques to detect mtDNA deletions in less invasive samples such as blood, urine, or tissue biopsies, thereby reducing the mechanical invasiveness while maintaining detection capability.
2Productivity
If limited diagnostic tools are used, then device complexity is reduced, but early detection and monitoring capabilities are insufficient
Solution Approach 1:
The patent segments the complex task of cancer detection into specific detectable components by focusing on particular mtDNA deletion regions. Instead of analyzing the entire genome or requiring complex multi-parameter assessment, the method targets specific deletion sites (such as residues 12317-16254) that can be detected using simplified PCR-based assays, thereby enabling early detection without excessive complexity.
Solution Approach 2:
The patent changes the detection parameter from structural or morphological cancer features to molecular parameters - specifically the presence and quantity of mtDNA deletions. This parameter transformation allows for early detection before structural changes are apparent, using quantitative measures of deletion abundance that can be detected with relatively simple molecular biology tools.
3Quantity of substance
If invasive procedures are used, then tissue samples can be obtained, but patient comfort and risk are reduced
Solution Approach 1:
The patent uses mtDNA deletions as an intermediary marker that can be detected in various biological samples including blood, urine, and tissue. This intermediary approach allows cancer detection without requiring direct sampling of cancerous tissue through invasive procedures, thereby reducing patient risk and discomfort while still obtaining sufficient biological material for analysis.
Solution Approach 2:
The patent extracts and detects specific mtDNA deletion sequences from biological samples rather than requiring extraction of cancer cells themselves. This selective extraction of molecular markers from readily available samples (blood, urine) eliminates the need for invasive tissue biopsy, reducing the harmful effects on patients while maintaining diagnostic quality.
Data Source
AI summary
The present invention relates to methods for predicting, diagnosing and monitoring cancer. The methods comprise obtaining biological samples, extracting mitochondrial DNA (mtDNA) from the samples, quantifying mitochondrial DNA mutation in the sample and comparing the level of mtDNA mutation with a reference value. The methods of the invention may also be effective in screening for new therapeutic agents and treatment regimes, and may also be useful for monitoring the response of a subject to a preventative or therapeutic treatment.