Frataxin deficiency in Friedreich’s ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival

Francesca Tiano, Francesca Amati, Fabio Cherubini, Elena Morini, Chiara Vancheri, Sara Maletta, Silvia Fortuni, Dario Serio, Andrea Quatrana, Riccardo Luffarelli, Monica Benini, Giulia Alfedi, Luca Panarello, Alessandra Rufini, Nicola Toschi, Marina Frontali, Silvia Romano, Christian Marcotulli, Carlo Casali, Silvia Gioiosa, Caterina Mariotti, Alessia Mongelli, Mario Fichera, Ivano Condò, Giuseppe Novelli, Roberto Testi, Florence Malisan; Human Molecular Genetics, , ddz306, doi:10.1093/hmg/ddz306

Our results suggest that HAX-1 could be considered as a potential biomarker of cardiac disease in FRDA and the evaluation of its expression might provide insights into its pathogenesis as well as improving risk stratification strategies.

Frataxin deficiency in Friedreich’s ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival