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Ciencia básica y patogénesis

Linde L Jacobs1

  • 1Cure MAPT FTD, Denver, CO, USA.

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Resumen
Este resumen es generado por máquina.

Las familias afectadas por mutaciones en el gen MAPT en la demencia frontotemporal (DFT) formaron una organización global para compartir información y abogar por la investigación. Esta iniciativa tiene como objetivo apoyar a las familias afectadas y acelerar el desarrollo de nuevas terapias para la DFT.

Palabras clave:
demencia frontotemporalMAPTgenéticaredesensayos clínicosterapiasneurocienciasalud pública

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Área de la Ciencia:

  • Neurociencia
  • Genética
  • Salud Pública

Sus antecedentes:

  • La demencia frontotemporal (DFT) es la demencia más común en personas menores de 60 años.
  • Aproximadamente el 30% de los casos de DFT tienen una base genética, vinculada a mutaciones en los genes GRN, C9orf72 y MAPT.
  • A pesar de que las mutaciones en el gen MAPT se identificaron en 1998, no existen terapias dirigidas ni ensayos clínicos multicéntricos.

Objetivo del estudio:

  • Establecer una red colaborativa para familias afectadas por mutaciones en el gen MAPT.
  • Facilitar el intercambio de información, la defensa y el apoyo para personas y familias afectadas por la DFT relacionada con MAPT.
  • Abordar la falta de recursos para el diagnóstico y tratamiento de la DFT.

Principales métodos:

  • Una organización sin fines de lucro y una base de datos fueron establecidas en noviembre de 2023 por familias emparentadas afectadas por mutaciones MAPT.
  • Se recopiló información de 42 familias emparentadas a lo largo de 6 generaciones y 10 países.
  • La base de datos incluye personas con enfermedad sintomática, portadores presintomáticos, no portadores probados y miembros en riesgo o no probados, totalizando más de 500 personas.

Principales resultados:

  • La organización ha organizado 42 familias emparentadas a nivel mundial, abarcando a más de 500 personas.
  • La red abarca 6 generaciones e incluye a diversos miembros de la familia (sintomáticos, presintomáticos, no portadores, en riesgo).
  • Este esfuerzo internacional conecta familias de América del Norte, América del Sur, Europa, Australia y Asia.

Conclusiones:

  • Existe una carga significativa de DFT en pacientes y familias, agravada por la falta de recursos eficientes de diagnóstico y tratamiento.
  • La organización está colaborando con otros grupos e instituciones de DFT para ampliar el alcance a familias MAPT en todo el mundo.
  • La iniciativa tiene como objetivo brindar apoyo, identificar áreas de defensa, promover la investigación y contribuir a futuras terapias para la DFT relacionada con MAPT.