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Las mutaciones en FOXC2 están fuertemente asociadas con la falla de la válvula primaria en las venas de las
Russell H Mellor1, Glen Brice, Anthony W B Stanton
1Cardiac & Vascular Sciences, St George's, University of London, Cranmer Terrace, London, SW17 0RE, UK.
Circulation
|March 21, 2007
Resumen
Las mutaciones en el gen FOXC2 están fuertemente relacionadas con la insuficiencia de la válvula venosa, causando reflujo en las venas de las piernas. Este descubrimiento pone de relieve el papel de FOXC2 en el mantenimiento de la salud de las válvulas venosas y linfáticas.
Área de la Ciencia:
- Genética La genética.
- Biología Vascular Biología Vascular
- Fisiología Humana Fisiología Humana.
Sus antecedentes:
- Se sabe que las mutaciones en el gen FOXC2 causan distiquiasis por linfedema, un linfedema primario a menudo asociado con venas varicosas.
- Se supone que el distiquiasis por linfedema es el resultado de la insuficiencia de la válvula linfática (reflujo).
- FOXC2 se expresa notablemente en las válvulas venosas embrionarias, lo que sugiere un papel potencial en el desarrollo de la válvula venosa.
Objetivo del estudio:
- Para investigar la hipótesis de que las mutaciones FOXC2 están asociadas con la insuficiencia de la válvula venosa y el reflujo.
- Determinar el vínculo entre las mutaciones del gen FOXC2 y el desarrollo de la insuficiencia venosa.
Principales métodos:
- Se empleó la ecografía dúplex para examinar el sistema venoso de la pierna.
- Se utilizó la ecografía Color Duplex para detectar y registrar el reflujo patológico en los participantes.
- El análisis estadístico, incluida la prueba exacta de Fisher, se utilizó para la comparación entre grupos.
Principales resultados:
- Todos los 18 participantes con una mutación FOXC2 exhibieron reflujo patológico en la gran vena safena.
- Se observó reflujo en venas profundas en 14 de los 18 participantes con mutaciones FOXC2.
- Solo 1 de cada 12 referentes (incluidos los miembros de la familia) mostró reflujo, lo que indica una fuerte asociación con mutaciones FOXC2 (P<0.0001).
Conclusiones:
- Las mutaciones FOXC2 están fuertemente asociadas con la insuficiencia de la válvula venosa primaria tanto en las venas superficiales como en las profundas de las piernas.
- Este estudio identifica a FOXC2 como el primer gen vinculado a la insuficiencia primaria de la válvula venosa.
- El gen FOXC2 juega un papel crítico en el correcto desarrollo y mantenimiento de las válvulas venosas y linfáticas.
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