Figure 3.
The molecular basis of BTHS cardiomyopathy. Defective TAZ and abnormal CL in BTHS result in numerous abnormalities in mitochondrial bioenergetics, morphogenesis, and architecture, as well as ROS and calcium (Ca2+) homeostasis. The question marks denote the unknown or controversial aspects. RYR: ryanodine receptors; MCU: mitochondrial Ca2+ uniporter; MICU: mitochondrial calcium uptake proteins; MICOS: mitochondrial contact site and cristae organizing system; TCA: tricarboxylic acid cycle; ANT: adenine nucleotide translocator; ROS: reactive oxygen species; Red-down arrows (↓): down-regulation; Red-up arrow (↑): up-regulation; Red question marks (?): uncertainty as to the molecular mechanism in BTHS cardiomyopathy.