PPEF-1 Gene Variant Diagnostic Marker for T-cell Lymphoma
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Solution Overview
Problem
Current treatments for non-Hodgkin lymphomas, particularly T-cell lymphomas, rely heavily on chemotherapy and radiotherapy due to a lack of understanding of the molecular mechanisms underlying their pathogenesis, and there is a need for more effective diagnostic markers.
Innovation Solution
A novel human protein phosphatase with EF-hands-1 (PPEF-1) gene variant is identified, and its nucleic acid and polypeptide sequences are used to develop diagnostic tools, including an expression vector, host cells for expression, and antibodies specific to the variant, enabling the detection of T-cell lymphoma, especially T-cell lymphoblastic lymphoma.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If chemotherapy and radiotherapy are used for treating T-cell lymphoma, then treatment can be provided, but the treatment effectiveness is limited due to lack of understanding of molecular mechanisms
Solution Approach 1:
The patent applies preliminary action by identifying and characterizing the PPEF-1 gene variant before treatment decisions are made. The gene variant detection enables early molecular characterization of T-cell lymphoma cases, providing critical information that guides subsequent treatment choices and improves therapeutic outcomes through mechanism-based approaches
2Measurement precision
If general chemotherapy and radiotherapy are used, then broad coverage treatment is provided, but diagnostic precision and targeted treatment are insufficient
Solution Approach 1:
The patent applies parameter changes by utilizing specific genetic parameters (PPEF-1 gene variant presence/absence) to differentiate T-cell lymphoma cases. This genetic parameter serves as a precise diagnostic marker that stratifies patients into distinct molecular subgroups, enabling tailored treatment approaches that match the underlying molecular pathology
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 PPEF-1-related gene variant provides a specific marker for diagnosing T-cell lymphoma, allowing for the identification of genetic abnormalities associated with the disease, potentially leading to more targeted and effective prevention and treatment strategies.
Implementation Method 1
The EF-hands have been shown to be involved in calcium binding (Ramulu and Nathans (2001) J Biol Chem. 276:25127-35) which strongly suggests that PPEF-1 may play a role in the development of T-cell lymphoma.
Data Source
AI summary
The invention relates to the nucleic acid and polypeptide sequences of one novel human PPEF-1-related gene variant (PPEF-1V). The invention also provides a process for making the polypeptides of the variant. The invention further provides a use of the nucleic acid and polypeptide sequences of the gene variant in diagnosing T-cell lymophoblastic lymphoma.