Evaluación integral de la calidad seminal, daño en el ADN espermático, expresión del gen AKAP4 y su relación con la infertilidad masculina.
Cargando...
Fecha
2024
Autores
López Lora, Yeira Paola
Título de la revista
ISSN de la revista
Título del volumen
Editor
Ediciones Universidad Simón Bolívar
Facultad de Ciencias Básicas y Biomédicas
Facultad de Ciencias Básicas y Biomédicas
Resumen
La infertilidad globalmente afecta hasta un 17.5% de parejas, con causas variadas
que incluyen factores genéticos y hormonales. Estas afectan la calidad espermática,
crucial para la reproducción. Las tecnologías de reproducción asistida (TRA), como
la fertilización in vitro (FIV), han avanzado la medicina reproductiva, permitiendo
intervenciones directas en la fertilización y el desarrollo embrionario, pero aún
existen brechas en la comprensión de la infertilidad, especialmente en áreas como
la fecundación y el daño genético.
El objetivo de esta tesis doctoral se centró en examinar la calidad seminal, el daño
en el ADN espermático y la expresión del gen AKAP4 para comprender su influencia
en la fecundación y la calidad embrionaria. Se estudiaron 45 pacientes de una
clínica de fertilidad y 50 individuos fértiles control, analizando la calidad seminal
según criterios de la OMS y la expresión de AKAP4 mediante espectroscopía
Raman. Se evaluó también la capacidad de fecundación y desarrollo embrionario.
Los resultados mostraron diferencias estadísticas significativas en movilidad,
concentración, vitalidad y morfología espermática entre pacientes y controles, lo que
puede indicar discrepancias en salud reproductiva. Diferencias en la metilación del
ADN y expresión de AKAP4 sugieren impacto en la expresión génica y calidad
espermática. La técnica SERS permitió identificar diferencias proteicas y de
metilación del ADN, esenciales para desarrollar modelos PLS-DA para diferenciar
técnicas de preparación espermática. Se encontró una correlación negativa entre la
fragmentación del ADN espermático y el desarrollo embrionario, indicando que
mayor fragmentación podría reducir la viabilidad embrionaria.
La investigación revela una variabilidad significativa en la calidad espermática y
genética entre pacientes y controles, con implicaciones importantes en la fertilidad
y medicina reproductiva. La calidad seminal y la fragmentación del ADN espermático
son indicadores clave de la fertilidad masculina. La espectrofotometría Raman y
SERS se perfilan como técnicas no invasivas y prometedoras para el diagnóstico y
la investigación de la infertilidad. Las TRA han mejorado las opciones de tratamiento
para parejas infértiles, pero la eficacia de estas tecnologías depende de la
comprensión profunda de la calidad espermática.
La investigación avanzada en la genética espermática y la integridad del ADN es
crucial para desarrollar tratamientos más efectivos. El daño en el ADN espermático
ha emergido como un factor significativo, asociado con resultados adversos en la
reproducción, lo que resalta la necesidad de más estudios detallados y precisos en
esta área. Se destaca la complejidad de la fertilidad masculina y la importancia de
considerar múltiples factores cuando se evalúa la infertilidad.
Esta investigación subraya la importancia de una evaluación comprensiva de la
calidad espermática, incluyendo la movilidad, morfología y la integridad del ADN,
para mejorar los enfoques diagnósticos y terapéuticos en la infertilidad masculina.
Además, se resalta el potencial de las técnicas de espectroscopía avanzada para
enriquecer la investigación futura y el tratamiento de la infertilidad, apuntando hacia
un futuro donde los tratamientos sean más efectivos y accesibles para todas las
parejas que enfrentan este desafío.
Infertility globally affects up to 17.5% of couples, with varied causes that include genetic and hormonal factors. This affect sperm quality, which is crucial for reproduction. Assisted reproductive technologies (ART), such as in vitro fertilization (IVF), have advanced reproductive medicine by allowing direct interventions in fertilization and embryonic development. However, there are still gaps in understanding infertility, especially in areas such as fertilization and genetic damage. The aim of this doctoral thesis was to examine seminal quality, sperm DNA damage, and AKAP4 gene expression to understand their influence on fertilization and embryo quality. 45 patients from a fertility clinic and 50 fertile control individuals were studied, analyzing seminal quality according to WHO criteria and AKAP4 expression using Raman spectroscopy. The capacity for fertilization and embryonic development was also assessed. Results showed significant statistical differences in sperm motility, concentration, vitality, and morphology between patients and controls, which may indicate discrepancies in reproductive health. Differences in DNA methylation and AKAP4 expression suggest an impact on gene expression and sperm quality. The SERS technique identified protein and DNA methylation differences, essential for developing PLS-DA models to differentiate sperm preparation techniques. A negative correlation was found between sperm DNA fragmentation and embryonic development, suggesting that increased fragmentation could reduce embryonic viability. The research reveals significant variability in sperm quality and genetics between patients and controls, with important implications for fertility and reproductive medicine. Seminal quality and sperm DNA fragmentation are key indicators of male fertility. Raman spectroscopy and SERS are emerging as non-invasive and promising techniques for infertility diagnosis and research. ART has improved treatment options for infertile couples, but the efficacy of these technologies depends on a deep understanding of sperm quality. Advanced research in sperm genetics and DNA integrity is crucial for developing more effective treatments. Sperm DNA damage has emerged as a significant factor associated with adverse reproductive outcomes, highlighting the need for more detailed and accurate studies in this area. The complexity of male fertility is emphasized, and the importance of considering multiple factors when assessing infertility is highlighted. This research underscores the importance of a comprehensive assessment of sperm quality, including motility, morphology, and DNA integrity, to improve diagnostic and therapeutic approaches in male infertility. Furthermore, the potential of advanced spectroscopy techniques to enrich future research and infertility treatment is highlighted, pointing towards a future where treatments are more effective and accessible to all couples facing this challenge.
Infertility globally affects up to 17.5% of couples, with varied causes that include genetic and hormonal factors. This affect sperm quality, which is crucial for reproduction. Assisted reproductive technologies (ART), such as in vitro fertilization (IVF), have advanced reproductive medicine by allowing direct interventions in fertilization and embryonic development. However, there are still gaps in understanding infertility, especially in areas such as fertilization and genetic damage. The aim of this doctoral thesis was to examine seminal quality, sperm DNA damage, and AKAP4 gene expression to understand their influence on fertilization and embryo quality. 45 patients from a fertility clinic and 50 fertile control individuals were studied, analyzing seminal quality according to WHO criteria and AKAP4 expression using Raman spectroscopy. The capacity for fertilization and embryonic development was also assessed. Results showed significant statistical differences in sperm motility, concentration, vitality, and morphology between patients and controls, which may indicate discrepancies in reproductive health. Differences in DNA methylation and AKAP4 expression suggest an impact on gene expression and sperm quality. The SERS technique identified protein and DNA methylation differences, essential for developing PLS-DA models to differentiate sperm preparation techniques. A negative correlation was found between sperm DNA fragmentation and embryonic development, suggesting that increased fragmentation could reduce embryonic viability. The research reveals significant variability in sperm quality and genetics between patients and controls, with important implications for fertility and reproductive medicine. Seminal quality and sperm DNA fragmentation are key indicators of male fertility. Raman spectroscopy and SERS are emerging as non-invasive and promising techniques for infertility diagnosis and research. ART has improved treatment options for infertile couples, but the efficacy of these technologies depends on a deep understanding of sperm quality. Advanced research in sperm genetics and DNA integrity is crucial for developing more effective treatments. Sperm DNA damage has emerged as a significant factor associated with adverse reproductive outcomes, highlighting the need for more detailed and accurate studies in this area. The complexity of male fertility is emphasized, and the importance of considering multiple factors when assessing infertility is highlighted. This research underscores the importance of a comprehensive assessment of sperm quality, including motility, morphology, and DNA integrity, to improve diagnostic and therapeutic approaches in male infertility. Furthermore, the potential of advanced spectroscopy techniques to enrich future research and infertility treatment is highlighted, pointing towards a future where treatments are more effective and accessible to all couples facing this challenge.
Descripción
Palabras clave
Reproducción Asistida, Calidad Seminal, Espectroscopia Raman, Fragmentación del ADN, ICSI, AKAP4, Assisted Reproduction, Seminal Quality, Raman Spectroscopy, DNA Fragmentation, ICSI, AKAP4