1471 lines
46 KiB
Text
1471 lines
46 KiB
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<img src="/sites/default/files/24-0070%20AoU%20Research%20Highlight%20Graphics%20March%202024.dev14_highlightSP_1980x855px.png" width="1980" height="855" alt="Una imagen con el título “Una variante genética reduce el riesgo de desarrollar una enfermedad renal en algunas personas de origen africano” muestra una silueta de África con una cadena de ADN en el medio y una persona sosteniendo una lupa sobre la cadena de ADN. Otra persona está frente a una computadora, y una tercera persona está mirando la cadena de ADN. El logo del Programa Científico All of Us está abajo a la derecha. " loading="lazy" typeof="foaf:Image" class="img-fluid" />
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<h2><strong>Puntos clave</strong></h2>
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<li>Ciertas variantes genéticas del gen L1 (<em>APOL1</em>) podrían causar enfermedad renal.</li>
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<li>Estas variantes son más comunes en personas de origen africano.</li>
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<li>Científicos confirmaron que otra variante <em>APOL1</em> baja el riesgo de enfermedad renal en personas que además tienen variantes asociadas a esa enfermedad.</li>
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<p>Una <a href="https://medlineplus.gov/spanish/genetica/entender/variantesytrastornos/genvariante/">variante genética</a> es un cambio en la secuencia del ADN de un gen. <strong>Algunas variantes genéticas pueden causar problemas de salud, pero otras variantes pueden ser útiles.</strong></p>
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<p>Los investigadores científicos descubrieron que diferentes variantes en el mismo gen tienen muchos efectos distintos en los riñones. </p>
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<p>Las personas con ciertas variantes genéticas en el gen <em>APOL1</em> tienen más probabilidad de desarrollar una <a href="https://www.niddk.nih.gov/health-information/community-health-outreach/national-kidney-month">enfermedad de los riñones</a> (en inglés) en comparación con otros individuos. Sin embargo, los investigadores científicos encontraron una variante <em>APOL1</em> diferente que bloqueaba el efecto de las variantes relacionadas con las enfermedades renales.<strong> La variante adicional redujo el riesgo de desarrollar enfermedades de los riñones en personas con alto riesgo.</strong></p>
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<p>El grupo publicó sus resultados en la revista académica <em><a href="https://journals.lww.com/jasn/fulltext/2023/11000/genetic_inhibition_of_apol1_pore_forming_function.12.aspx">Journal of the American Society of Nephrology</a></em> (en inglés).</p>
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<h2>La variante <em>APOL1</em> y las enfermedades del riñón </h2>
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<p>Las personas de origen africano tienen más probabilidad de desarrollar <a href="https://www.niddk.nih.gov/health-information/informacion-de-la-salud/enfermedades-rinones/informacion-general/que-es">enfermedades del riñón</a> que la mayoría de las personas. Una razón es debido a que esas personas tienen más probabilidad de tener ciertas variantes <em>APOL1 </em>que están asociadas a las enfermedades de los riñones. </p>
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<p>Los investigadores científicos se preguntaron si otras variantes <em>APOL1</em> podían disminuir el riesgo de desarrollar enfermedades de los riñones en personas que tuvieran las variantes <em>APOL1 </em>asociadas a esas enfermedades. Para responder a esta pregunta, estudiaron registros de salud, información genética y datos demográficos del Million Veteran Program (Programa del Millón de Veteranos). Analizaron la información de cerca de 121,500 participantes de origen africano del Programa del Millón de Veteranos.</p>
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<p><strong>El grupo encontró una variante del gen <em>APOL1</em> que bloqueaba los efectos dañinos de las variantes asociadas con las enfermedades de los riñones.</strong> Cuando las personas tienen esas variantes asociadas a la enfermedad, y además portan la variante protectora, tienen menos probabilidad de desarrollar una enfermedad de los riñones. <strong>Sus posibilidades de desarrollar enfermedades de los riñones son similares a las de las personas que no tienen la variante protectora contra esas enfermedades.</strong></p>
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<p>Para confirmar este hallazgo, los investigadores científicos estudiaron la información del Programa Científico <em>All of Us</em>, y del banco de muestras biológicas de la Universidad Vanderbilt. Revisaron la información genómica y de los registros electrónicos de salud de más de 14,700 participantes de <em>All of Us,</em> y cerca de 14,400 participantes de la Universidad Vanderbilt. Todos los participantes eran de origen africano.</p>
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<p>Los investigadores científicos encontraron los mismos resultados: tener la variante protectora <em>APOL1 </em>redujo la probabilidad de desarrollar enfermedades de los riñones en personas con variantes relacionadas con esas enfermedades.</p>
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<h2>No todas las variantes <em>APOL1 </em>son perjudiciales </h2>
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<p><strong>Las variantes <em>APOL1</em> asociadas a las enfermedades de los riñones pueden también ser beneficiosas.</strong> Ayudan a proteger a las personas de la <a href="https://medlineplus.gov/spanish/ency/article/001362.htm">enfermedad africana del sueño</a>. Esta enfermedad se propaga a través de las picaduras de una mosca que es común en muchos lugares de África. Es por esto que las variantes son más comunes en personas de origen africano.</p>
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<p>Tener estas variantes es útil para las personas que podrían desarrollar la enfermedad africana del sueño. Pero en regiones donde la mosca que la produce no es común, las variantes no son de ayuda y pueden llevar al desarrollo de enfermedades del riñón. </p>
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<h2>Usar grandes bases de datos para estudiar los genes </h2>
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<p><strong>Estudiar más de una base de datos ayuda a compensar las desventajas que cada una puede tener por separado.</strong> Por ejemplo, los participantes del Programa del Millón de Veteranos son en su mayoría hombres. <em>All of Us</em> y el banco de muestras biológicas de la Universidad Vanderbilt son fuentes de información más diversas, pero también son más pequeñas. Un resultado basado en una pequeña base de datos podría no ser tan confiable en sí misma. Pero encontrar el mismo resultado en las tres bases de datos hace que los resultados sean sólidos.</p>
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<p>Las conclusiones de este estudio respaldan la importancia de realizar pruebas genéticas más detalladas de detección temprana para las enfermedades de los riñones y así entender mejor cómo cuidar la salud de cada persona.</p>
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<p>Este estudio también destaca una nueva forma potencial de tratar o protegerse contra las enfermedades de los riñones. <strong>Medicamentos que protegen de forma similar a como lo hacen las variantes genéticas protectoras están en etapas tempranas de estudio para otros problemas de salud. En el futuro, podrían ser tratamientos prometedores para las enfermedades de los riñones.</strong></p>
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<a href="https://allofus.nih.gov/news-events/investigaciones-destacadas/all-us-aclara-lo-que-sabemos-sobre-salud-cardiaca-hispanos" class="title_link">
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