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Published on: March 15, 2024
The Genetic Basis of Peyronie Disease: A Review
Amin S Herati1, Alexander W Pastuszak1
1Center for Reproductive Medicine, Baylor College of Medicine, Houston, TX, USA; Scott Department of Urology, Baylor College of Medicine, Houston, TX, USA.
Introduction:
Peyronie disease (PD) is a progressive fibrotic disorder of the penile tunica albuginea that results in fibrotic penile plaques and can lead to penile deformity. Characterized by aberrant fibrosis resulting in part from the persistence of myofibroblasts and altered gene expression, the molecular factors underpinning PD and other related fibrotic diatheses are just being elucidated. A genetic link to PD was first identified three decades ago using pedigree analyses. However, the specific genetic factors that predispose patients to aberrant fibrosis remain unknown, and the relations between these fibrotic conditions and other heritable diseases, including malignancy, are uncharacterized.
Aim:
To review the current landscape linking molecular and genetic factors to aberrant fibrosis in PD and related fibrotic diatheses, including Dupuytren disease.
Methods:
Review and evaluation of the literature from 1970 to the present for genetic factors associated with PD were performed.
Main Outcome Measures:
Data describing the genetic factors associated with PD were obtained.
Results:
We describe the known structural chromosomal abnormalities and single-nucleotide polymorphisms associated with fibrotic diatheses and discuss the spectrum of differential gene expression data comparing normal tissues with those derived from men with PD or Dupuytren disease. We discuss epigenetic mechanisms that might regulate gene expression and alter predisposition to fibrosis.
Conclusion:
Although the current understanding of the genetic factors associated with PD is limited, significant advances have been made during the past three decades. Further research is necessary to provide a more comprehensive understanding of the landscape of genetic factors responsible for the development of PD.
Insights
Genetic factors contributing to Peyronie disease (PD) are being identified, though specific predispositions to this fibrotic disorder remain unclear. Further research is needed to fully understand the genetic landscape of PD development.
Area of Science:
- Fibrotic diatheses
- Genetics
- Molecular biology
Background:
- Peyronie disease (PD) is a progressive fibrotic disorder affecting the penile tunica albuginea, leading to plaque formation and penile deformity.
- Aberrant fibrosis in PD involves myofibroblast persistence and altered gene expression, with underlying molecular factors still under investigation.
- A genetic link to PD has been recognized for decades, but specific predisposing genetic factors and their relation to other heritable diseases are largely unknown.
Purpose of the Study:
- To review and synthesize current knowledge on molecular and genetic factors associated with aberrant fibrosis in PD.
- To explore the connections between PD, other fibrotic conditions like Dupuytren disease, and potential genetic links.
- To elucidate the genetic underpinnings of fibrotic diatheses.
Main Methods:
- Comprehensive literature review and evaluation of studies from 1970 to the present.
- Focused search for genetic factors specifically associated with Peyronie disease.
- Analysis of data pertaining to genetic factors implicated in PD.
Main Results:
- Identification of known structural chromosomal abnormalities and single-nucleotide polymorphisms linked to fibrotic diatheses.
- Discussion of differential gene expression patterns observed in PD and Dupuytren disease tissues compared to normal tissues.
- Exploration of epigenetic mechanisms potentially regulating gene expression and influencing fibrosis susceptibility.
Conclusions:
- Current understanding of genetic factors in PD is limited but has advanced significantly over the last 30 years.
- Further research is essential to achieve a comprehensive grasp of the genetic factors driving PD development.
- Elucidating these genetic factors could provide insights into other heritable fibrotic conditions.
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