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Errores de metilación en genes impresos en espermatozoides humanos: de observaciones moleculares a aplicaciones
C Joana Marques1,2, Mário Sousa3,4, Filipa Carvalho1,2
1Genetics Unit, Department of Pathology, Faculty of Medicine, University of Porto (FMUP), 4200-319, Porto, Portugal.
Biology of reproduction
|February 4, 2026
Resumen
Los errores de imprinting epigenético en el esperma pueden provocar infertilidad y síndromes de imprinting. El análisis de metilación del esperma puede mejorar los diagnósticos y las terapias en las tecnologías de reproducción asistida.
Área de la Ciencia:
- Epigenética
- Biología de la Reproducción
- Genética
Sus antecedentes:
- Las modificaciones epigenéticas, como la metilación del ADN, regulan la expresión génica sin alterar la secuencia del ADN.
- Los genes impresos se expresan según el origen parental, con marcas establecidas durante la gametogénesis.
- Los errores en el imprinting pueden causar problemas de desarrollo y síndromes de imprinting (p. ej., Silver-Russell, Beckwith-Wiedemann).
Objetivo del estudio:
- Revisar la literatura sobre errores de imprinting en gametos masculinos.
- Explorar el vínculo entre las alteraciones de la espermatogénesis, la infertilidad masculina y los defectos de imprinting.
- Discutir la utilidad clínica del análisis de metilación del esperma en la reproducción asistida.
Principales métodos:
- Revisión de la literatura centrada en errores de imprinting en gametos masculinos e infertilidad.
- Análisis de observaciones del grupo de autores y otros investigadores.
- Perspectiva clínica sobre la implementación del análisis de metilación del esperma.
Principales resultados:
- Las anomalías en el establecimiento/mantenimiento del imprinting en el esperma están relacionadas con la infertilidad masculina.
- Los errores de imprinting en el gameto masculino pueden afectar el desarrollo embrionario y placentario.
- Se observaron defectos de imprinting en el esperma de hombres infértiles y en casos de síndromes de imprinting.
Conclusiones:
- La comprensión de los errores de imprinting en los gametos masculinos es crucial para el diagnóstico de la infertilidad masculina.
- El análisis de metilación del esperma ofrece potencial para mejorar el diagnóstico y las terapias en las Tecnologías de Reproducción Asistida (TRA).
- Se necesita más investigación sobre los mecanismos moleculares de los defectos espermatogénicos.
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