Y-Chromosomal Gene Modulation for mLoY Cardiovascular Risk

Resolve Bottlenecks,
Find Innovative SolutionsGenerate Solutions

Solution Overview

Problem

The mechanisms underlying age-associated cardiovascular diseases and the role of Y-chromosome loss (mLoY) in increasing cardiovascular risk are not well understood, leading to inadequate treatment strategies for conditions like atherosclerotic disease and heart failure with preserved ejection fraction.

Innovation Solution

Identification and modulation of Y-chromosomal genes such as RPS4Y1, DDX3Y, EIF1AY, UTY, ZFY, KDM5D, USP9Y, TTTY14, and LINC00278 for therapeutic intervention, including agonists and modulators to regulate gene expression and function, and use of diagnostic markers for cardiovascular risk assessment.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Reliability

If loss of Y chromosome (mLoY) occurs in peripheral blood cells, then cardiovascular risk increases and disease severity worsens, but the specific genetic mechanisms and responsible genes remain unknown

Engineering Contradiction:

Improvecardiovascular risk predictionVSAvoidunknown genetic mechanisms

Core Design Contradiction:

ReliabilityVSLoss of information

Solution Approach 1:

The patent segments the Y chromosome into individual genes (RPS4Y1, DDX3Y, EIF1AY, UTY, ZFY, KDM5D, USP9Y, TTTY14, LINC00278) to identify which specific genetic elements contribute to cardiovascular disease risk, moving from chromosome-level analysis to gene-level precision

Inventive Principle:

Principle #1Segmentation

Solution Approach 2:

The patent uses Y-chromosomal gene expression levels as intermediary biomarkers that mediate between the genetic abnormality (mLoY) and the phenotypic outcome (cardiovascular disease), enabling indirect measurement and mechanistic understanding

Inventive Principle:

Principle #24Intermediary (Mediator)

2Ease of manufacture

If conventional cardiovascular treatment strategies are used, then general cardiovascular care is provided, but they are inadequate for addressing mLoY-specific disease mechanisms

Engineering Contradiction:

Improvetreatment availabilityVSAvoidtreatment effectiveness

Core Design Contradiction:

Ease of manufactureVSReliability

Solution Approach 1:

The patent changes the therapeutic parameter from general cardiovascular care to targeted modulation of specific Y-chromosomal genes, using agonists and modulators to alter gene expression levels and restore normal cardiovascular function in mLoY patients

Inventive Principle:

Principle #35Parameter changes

Solution Approach 2:

The patent identifies and copies the protective effects of intact Y-chromosomal genes through pharmacological agonists and modulators, replicating the function of lost genes without requiring chromosome replacement

Inventive Principle:

Principle #26Copying

3Loss of information

If sex differences in cardiovascular disease are addressed through hormonal aspects only, then partial understanding is achieved, but additional genetic aspects remain unexplored

Engineering Contradiction:

Improvegenetic aspects of sex differencesVSAvoidresearch complexity

Core Design Contradiction:

Loss of informationVSDevice complexity

Solution Approach 1:

The patent extracts the genetic component from the complex interplay of sex differences in cardiovascular disease, isolating Y-chromosomal gene effects from hormonal influences to study genetic contributions independently

Inventive Principle:

Principle #2Taking out (Extraction)

Solution Approach 2:

Instead of studying how Y chromosome loss causes disease, the patent inverts the approach by identifying genes whose presence protects against disease, then developing agents that replicate their protective effects

Inventive Principle:

Principle #13The other way round (Inversion)

Data Source

PatentEP4628584A1Y chrosomal genes for the treatment or diagnosis of cardiovascular disease

Publication Date: 2025.10.08 JOHANN WOLFGANG GOETHE UNIV FRANKFURT AM MAIN

Figure 1A~1B
Figure 1C
Figure 2A

AI summary

[1] The invention is based on the identification of Y chromosomal genes responsible for the pathophysiology of cardiovascular diseases. The invention provides methods for the identification of compounds useful in the treatment of cardiovascular diseases as well as methods, compounds, and compositions useful for the treatment or prevention of cardiovascular diseases and/or risks.