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Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
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La deficiencia de FARS2 causa cardiomiopatía al interrumpir la homeostasis mitocondrial y el sistema de control de

Bowen Li1, Fangfang Liu2, Xihui Chen1

  • 1Department of Biochemistry and Molecular Biology, Shaanxi Provincial Key Laboratory of Clinical Genetics (B.L., X.C., T.C., J.Z., Y.L., Y.Y., W.H., M.Z., Y.W.), Air Force Medical University, Xi'an, China.

Circulation
|February 16, 2024
PubMed
Resumen

Las variantes genéticas en FARS2 (fenilalanil-tRNA sintetasa mitocondrial) están relacionadas con la miocardiopatía hipertrófica (HCM). La deficiencia de FARS2 deteriora la función mitocondrial, lo que lleva a la insuficiencia cardíaca y ofrece nuevas vías de diagnóstico y tratamiento para la CMH.

Palabras clave:
La autofagiaMiocardiopatíasinsuficiencia cardíacaDinámica de las mitocondriasDisfunción mitocondrialEn el caso de las enzimas sintéticas de ARN-t, se utilizarán las siguientes sustancias:Aminoacilación del ARNt

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Área de la Ciencia:

  • La genética
  • Cardiología
  • Biología mitocondrial

Sus antecedentes:

  • La cardiomiopatía hipertrófica (HCM) es una enfermedad cardíaca genética común, a menudo relacionada con genes de proteínas sarcoméricas.
  • Los genes patógenos para algunos casos de CMH siguen sin identificarse, particularmente en la CMH parcial.
  • FARS2, crucial para la traducción mitocondrial, se ha asociado con trastornos neurológicos pero no previamente con afecciones cardíacas.

Objetivo del estudio:

  • Para identificar nuevos genes patógenos en la miocardiopatía.
  • Investigar el papel de FARS2 en la homeostasis mitocondrial y el desarrollo de la cardiomiopatía.
  • Para explorar FARS2 como un objetivo terapéutico potencial para la enfermedad cardíaca hereditaria.

Principales métodos:

  • La secuenciación del exoma completo y la secuenciación de Sanger identificaron variantes de FARS2 en pacientes con CMH.
  • Se utilizaron modelos in vivo e in vitro, incluidos los ratones mutantes Fars2, el pez cebra knockdown Fars2 y los miocitos ventriculares neonatales de rata.
  • Se realizó secuenciación de ARN, análisis funcionales mitocondriales y acoplamiento molecular para evaluar el impacto de FARS2.

Principales resultados:

  • Se identificaron siete nuevas variantes de FARS2 en pacientes con CMH.
  • La deficiencia de Fars2 en ratones y modelos de pez cebra recapituló hipertrofia cardíaca, insuficiencia cardíaca y disfunción mitocondrial.
  • La deficiencia de FARS2 interrumpió la homeostasis mitocondrial al deteriorar la síntesis de proteínas y el control de calidad mitocondrial, lo que condujo a la hiperfragmentación y al deterioro de la autofagia.

Conclusiones:

  • FARS2 juega un papel crítico, no reconocido previamente, en el mantenimiento de la homeostasis cardíaca y mitocondrial.
  • Las variantes FARS2 están implicadas en la patogénesis de la cardiomiopatía hereditaria.
  • Esta investigación ofrece nuevos conocimientos para el diagnóstico molecular, la prevención y las estrategias de tratamiento de la miocardiopatía asociada a FARS2.