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Medium-throughput Screening Assays for Assessment of Effects on Ca2+-Signaling and Acrosome Reaction in Human Sperm
Published on: March 1, 2019
Enlace entre la infertilidad masculina y la expansión de repetición de trinucleótidos en el gen del receptor de
A T Dowsing1, E L Yong, M Clark
1Institute of Reproduction and Development and Department of Mathematics and Statistics, Monash University, Monash Medical Centre, Victoria, Australia.
Lancet (London, England)
|August 31, 1999
Resumen
Las repeticiones de trinucleótidos CAG expandidas en el gen del receptor de andrógenos están vinculadas a la infertilidad masculina. Este hallazgo sugiere un factor de riesgo genético para la espermatogénesis defectuosa y la heredabilidad potencial de la infertilidad masculina.
Área de la Ciencia:
- Genética La genética.
- Biología Reproductiva Biología Reproductiva.
- Biología Molecular Biología Molecular
Sus antecedentes:
- Los andrógenos y el receptor de andrógenos son cruciales para la espermatogénesis.
- Las mutaciones en el gen del receptor de andrógenos pueden afectar la fertilidad masculina.
- El estudio investiga el papel de la expansión repetida del trinucleótido en la infertilidad masculina.
Objetivo del estudio:
- Determinar si la expansión de repetición de trinucleótidos en el gen del receptor de andrógenos está asociada con la infertilidad masculina.
- Para analizar la relación entre la longitud de repetición de CAG y los trastornos espermatogénicos.
Principales métodos:
- Análisis del gen del receptor de andrógenos en 67 pacientes con infertilidad masculina y controles.
- Se usó PCR, polimorfismo conformacional de cadena única y secuenciación de ADN.
- Evaluación de las mutaciones de repetición de longitud y punto de trinucleótido (CAG).
Principales resultados:
- No se encontraron mutaciones puntuales en el gen del receptor de andrógenos.
- Los pacientes infértiles con azoospermia idiopática u oligozoospermia tenían tramos de repetición de CAG significativamente más largos que los controles.
- Las longitudes más largas de repetición de CAG se asociaron con un mayor riesgo de trastornos espermatogénicos.
Conclusiones:
- Existe una correlación entre la longitud de repetición de CAG en el gen del receptor de andrógenos y la espermatogénesis defectuosa.
- La herencia de esta mutación a través de la inyección intracitoplasmática de esperma puede aumentar la infertilidad masculina futura.
- Más alargamiento repetido plantea riesgos de aumento de la gravedad de la infertilidad y enfermedades neurodegenerativas.
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