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La suplementación con ácido alfa lipoico mejora las alteraciones patológicas en modelos celulares de ataxia de
Marta Talaverón-Rey1, Diana Reche-López1, Suleva Povea-Cabello1,2
1Centro Andaluz de Biología del Desarrollo (CSIC-Junta de Andalucía-UPO), Universidad Pablo de Olavide, 41013, Seville, Spain.
Orphanet journal of rare diseases
|August 23, 2025
Resumen
El ácido alfa lipoico (ALA) es prometedor en el tratamiento de la ataxia de Friedreich (FRDA) al corregir parcialmente los defectos celulares. Este antioxidante puede aumentar la expresión de frataxina y revertir el fenotipo de la enfermedad en los modelos FRDA.
Área de la Ciencia:
- La neurociencia
- La genética
- Biología mitocondrial
Sus antecedentes:
- La ataxia de Friedreich (FRDA) es un trastorno neurodegenerativo autosómico recesivo.
- FRDA es causada por la disminución de la expresión del gen de la frataxina (FXN).
- La fisiopatología involucra disfunción mitocondrial, estrés oxidativo y deterioro de la producción de energía.
Objetivo del estudio:
- Evaluar el ácido alfa lipoico (ALA) para revertir las alteraciones patológicas asociadas con FRDA.
- Investigar los efectos del ALA en los fibroblastos y las neuronas inducidas de pacientes con FRDA.
Principales métodos:
- Se evaluó la acumulación de hierro, la peroxidación lipídica y los niveles de frataxina.
- Expresión de proteínas mitocondriales y bioenergética examinadas.
- Utilizó fibroblastos derivados del paciente y neuronas inducidas.
Principales resultados:
- El tratamiento con ALA corrigió parcialmente los cambios patológicos en los fibroblastos y las neuronas FRDA.
- La concentración óptima de ALA se correlacionó con el número de repeticiones triples de GAA en el gen FXN.
- Los efectos del ALA pueden estar mediados por la activación del Receptor Gamma Activado por el Proliferador de Peroxisomas (PPARγ).
Conclusiones:
- El tratamiento con ALA puede mejorar la expresión de frataxina en modelos celulares de FRDA.
- El ALA demuestra potencial para revertir el fenotipo mutante en FRDA.
- El ALA representa un agente terapéutico potencial para la ataxia de Friedreich.
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