Correlation between frataxin expression and contractility revealed by in vitro Friedreich’s ataxia cardiac tissue models engineered from human pluripotent stem cells

Andy On-Tik Wong, Gabriel Wong, Michael Shen, Maggie Zi-Ying Chow, Wan Wai Tse, Bimal Gurung, Suet Yee Mak, Deborah K. Lieu, Kevin D. Costa, Camie W. Chan, Alain Martelli, Joseph F. Nabhan and Ronald A. Li; Stem Cell Research & Therapy 2019 10:203 doi:10.1186/s13287-019-1305-y

In summary, we demonstrated that the clinical symptoms of contractile and electrophysiological dysfunction in FRDA patients can be recapitulated by human cardiac tissues engineered from FXN-deficient hPSC-derived hvCMs. Translationally, the positive correlation between FXN expression and contractility and the results of our rescue experiments underscore the potential of FXN restoration by small molecules or gene therapy as an effective therapeutic strategy for suppressing or even reversing the cardiac symptoms of FRDA.