Whole-body deficiency of tafazzin enzymatic activity in Barth Syndrome results in widespread neuromuscular remodelling, including motor unit loss, without overt energetic failure at rest.
Myopathy in Barth Syndrome arises from cumulative structural and signalling adaptations rather than solely from mitochondrial ATP insufficiency.
Whole-body deficiency of tafazzin enzymatic activity, as occurs in BTHS, is sufficient to result in widespread neuromuscular remodelling, including fibre size/type shifts, motor unit loss, NMJ dysregulation and stress pathway activation, without overt energetic failure at rest. These findings suggest that myopathy in BTHS arises not solely from mitochondrial ATP insufficiency but rather from cumulative structural and signalling adaptations.
Matias et al. (Tue,) conducted a other in Barth Syndrome. Tafazzin enzymatic activity deficiency was evaluated on Neuromuscular remodelling. Whole-body deficiency of tafazzin enzymatic activity in Barth Syndrome results in widespread neuromuscular remodelling, including motor unit loss, without overt energetic failure at rest.