Systematic review and evidence-based classification of differentially expressed mRNA in human spermatozoa : insights to improve the diagnosis and prognosis of male infertility
Anton, Ester (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Zurera Egea, Coral (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Farriol, Roser (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Sarrate Navas, Zaida (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Blanco, Joan (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)

Date:	2025
Abstract:	Since its emergence in the 2000s, the study of sperm RNA has revealed their influence in sperm functions and early embryo development, positioning them as promising markers for the diagnosis of male infertility. This systematic review aimed to evaluate the potential of differentially expressed sperm mRNA associated with infertility to improve diagnostic accuracy, and to identify predictive biomarkers for successful assisted reproductive technology (ART) outcomes. A comprehensive search of the MEDLINE-PubMed database was conducted from inception to 28 April 2023, and a total of 67 eligible articles were selected. Data on 451 genes were extracted and analysed using a custom scoring system, revealing a strong association between altered seminal parameters and the expression of nine mRNA: AKAP4, DDX4, PGK2, PIWIL1, PRM1, PRM2, TNP1, TNP2 and PLCZ1. Notably, aberrant expression of PLCZ1, PRM1, PRM2 and PIWIL1 was closely linked with reduced ART success rates. These findings suggest that these genes constitute a panel of the most prominent biomarkers of broader transcriptomic changes, potentially reflecting disruptions in spermatogenesis. Given the complexity of diagnosing male fertility at a molecular level, integrating sperm transcriptome analysis with conventional semen assessments could enhance fertility predictions, although standardization of methodologies is essential to improve the reliability of the results.
Grants:	Instituto de Salud Carlos III PI21/00564 Agència de Gestió d'Ajuts Universitaris i de Recerca 2021/SGR-00122
Note:	Altres ajuts: acords transformatius de la UAB
Rights:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original.
Language:	Anglès
Document:	Article de revisió ; recerca ; Versió publicada
Subject:	Assisted reproductive technology ; Biomarker ; Gene prioritization ; Male infertility ; Sperm mRNA
Published in:	Reproductive biomedicine online, Vol. 51, Issue 3 (September 2025) , art. 104993, ISSN 1472-6491

DOI: 10.1016/j.rbmo.2025.104993

14 p, 767.0 KB

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