Alpha-lipoic acid supplementation corrects pathological alterations in cellular models of pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels.
Marta Talaverón-ReyMónica Álvarez-CórdobaIrene Villalón-GarcíaSuleva Povea-CabelloJuan M Suárez-RiveroDavid Gómez-FernándezAna Romero-GonzálezAlejandra Suárez-CarrilloManuel Munuera-CabezaPaula Cilleros-HolgadoDiana Reche-LópezRocío Piñero-PérezJosé Antonio Sánchez-AlcázarPublished in: Orphanet journal of rare diseases (2023)
Our results suggest that α-LA treatment can increase the expression levels of PANK2 and reverse the mutant phenotype in PANK2 responsive pathogenic variants. The existence of residual enzyme expression in some affected individuals raises the possibility of treatment using high dose of α-LA.