Friedreich’s ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological abnormalities and calcium handling deficiency

Duncan E. Crombie, Claire L. Curl, Antonia JA Raaijmakers, Priyadharshini Sivakumaran, Tejal Kulkarni, Raymond CB Wong, Itsunari Minami, Marguerite V. Evans-Galea, Shiang Y. Lim, Lea Delbridge, Louise A. Corben, Mirella Dottori, Norio Nakatsuji, Ian A. Trounce, Alex W. Hewitt, Martin B. Delatycki, Martin F. Pera, Alice Pébay; Aging (Albany NY). 2017; 9:1440-1452. doi: 10.18632/aging.101247.

FRDA- cardiomyocytes display a significant increase in beat rate variability, demonstrating a potential for cardiac dysfunction, compared to the control cardiomyocytes. These data also suggest that impairment in Ca2+ handling is responsible for the observed electrophysiological phenotype. This was confirmed by assessing Ca2+ transients. In the FRDA-cardiomyocytes significantly lower diastolic and systolic Ca2+ levels and reduced transient amplitude signals were observed compared with control cardiomyocytes. Collectively, our data demonstrates a Ca2+ handling impairment in the FRDA cardiomyocytes.

 Friedreich’s ataxia induced pluripotent stem cell-derived cardiomyocytes display electrophysiological abnormalities and calcium handling deficiency