Mejora de la insuficiencia autofágica relacionada con X en la enfermedad de Danon con un inhibidor de la metilación

Kwong-Man Ng1, Pamela Y Mok1, Amy W Butler1

  • 1From Cardiology Division, Department of Medicine (K.-M.N., J.C.Y.H., Y.-K.L., W.-H.L., K.-W.A., Y.-M.L., L.-Y.W., C.-W.S., H.-F.T.) and Department of Psychiatry (A.W.B., S.-W.C., P.C.S., A.C.), Queen Mary Hospital, Research Center of Heart, Brain, Hormone and Healthy Aging, Li Ka Shing Faculty of Medicine (K.-M.N, C.W.-S., H.-F.T.), Hong Kong-Guangdong Joint Laboratory on Stem Cell and Regenerative Medicine (M.A.E., H.-F.T.), Centre for Genomic Sciences, Li Ka Shing Faculty of Medicine (P.C.S.), State Key Laboratory for Cognitive and Brain Sciences, Li Ka Shing Faculty of Medicine (P.C.S.), and Shenzhen Institutes of Research and Innovation (H.-F.T.), University of Hong Kong, Hong Kong SAR, China; Stem Cell Disease Models, A*STAR Institute of Medical Biology, Singapore (P.Y.M.); MRC Social Genetic and Developmental Psychiatry Centre, Institute of Psychiatry, King's College London, London, UK (A.W.B.); and Key Laboratory of Regenerative Biology of the Chinese Academy of Sciences and Guangdong Provincial Key Laboratory of Stem Cells and Regenerative Medicine, South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Guangzhou, China (M.A.E.).

Circulation
|September 29, 2016
PubMed
Resumen

La enfermedad de Danon, un trastorno genético que afecta al corazón, muestra una gravedad variada en las mujeres debido a la inactivación del cromosoma X. La reactivación del gen LAMP2 sano en las células del paciente con un inhibidor de la metilación del ADN mejoró la función celular, ofreciendo una estrategia terapéutica potencial.