Why the study?
The mechanisms by which impaired cardiolipin biogenesis from tafazzin mutations causes cardiac muscle weakness and arrhythmia in Barth syndrome are poorly understood.
Population
Cardiac-specific TAZ knockout mice and human induced pluripotent stem cell-derived cardiomyocytes
Comparison
TAZ inactivation vs wild-type controls, with pharmacological or genome-editing pathway inhibition
Design
Preclinical in vivo and in vitro laboratory study
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Cardiac-specific TAZ knockout increases arrhythmia susceptibility in mice; leaves open mechanistic translation to sudden death risk in Barth syndrome.
Inhibition of the ROS-CaMKII-RYR2 pathway normalizes aberrant calcium handling and improves contractility in models of Barth syndrome, offering a potential therapeutic target.
A 2021 study studied this question.
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