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Published on: July 24, 2013
Establishment of mouse line showing inducible priapism-like phenotypes
Daiki Hashimoto1,2, Kota Fujimoto1,2, Shin Morioka3
1Department of Developmental Genetics Institute of Advanced Medicine, Wakayama Medical University Wakayama Japan.
Purpose:
Penile research is expected to reveal new targets for treatment and prevention of the complex mechanisms of its disorder including erectile dysfunction (ED). Thus, analyses of the molecular processes of penile ED and continuous erection as priapism are essential issues of reproductive medicine.
Methods:
By performing mouse N-ethyl-N-nitrosourea mutagenesis and exome sequencing, we established a novel mouse line displaying protruded genitalia phenotype (PGP; priapism-like phenotype) and identified a novel Pitpna gene mutation for PGP. Extensive histological analyses on the Pitpna mutant and intracavernous pressure measurement (ICP) and liquid chromatography-electrospray ionization tandem mass spectrometry (LC-ESI/MS)/MS analyses were performed.
Results:
We evaluated the role of phospholipids during erection for the first time and showed the mutants of inducible phenotypes of priapism. Moreover, quantitative analysis using LC-ESI/MS/MS revealed that the level of phosphatidylinositol (PI) was significantly lower in the mutant penile samples. These results imply that PI may contribute to penile erection by PITPα.
Conclusions:
Our findings suggest that the current mutant is a mouse model for priapism and abnormalities in PI signaling pathways through PITPα may lead to priapism providing an attractive novel therapeutic target in its treatment.
Insights
Researchers identified a new mouse model for priapism, a condition of continuous erection. This discovery highlights phosphatidylinositol (PI) signaling as a potential therapeutic target for priapism and erectile dysfunction (ED).
Area of Science:
- Reproductive Medicine
- Molecular Biology
- Genetics
Background:
- Erectile dysfunction (ED) and priapism are complex penile disorders requiring further research for effective treatments.
- Understanding the molecular mechanisms of penile function is crucial for advancing reproductive medicine.
Purpose of the Study:
- To investigate the molecular processes underlying penile disorders, specifically priapism.
- To identify novel genetic targets for the treatment and prevention of penile dysfunction.
Main Methods:
- Generated a novel mouse line with a priapism-like phenotype using N-ethyl-N-nitrosourea mutagenesis and exome sequencing.
- Identified a mutation in the Pitpna gene associated with the priapism-like phenotype.
- Conducted histological analyses, intracavernous pressure measurements, and LC-ESI/MS/MS to analyze penile tissue.
Main Results:
- Established a mouse model exhibiting a priapism-like phenotype due to a Pitpna gene mutation.
- Demonstrated the role of phospholipids in penile erection for the first time.
- Quantified significantly lower levels of phosphatidylinositol (PI) in mutant penile samples, suggesting PI's involvement in erection via PITPα.
Conclusions:
- The identified Pitpna mutant mouse serves as a valuable model for studying priapism.
- Abnormalities in PI signaling pathways mediated by PITPα are implicated in the development of priapism.
- This research presents a novel therapeutic target for priapism treatment.
