'Rotor free-wheeling' in impaired F1FO-ATPase induces congenital hypermetabolism

A de novo heterozygous variant in the catalytic subunit of mitochondrial F1FO-ATPase has been recently discovered by Ganetzky et al. to be the main cause of an autosomal dominant syndrome of hypermetabolism associated with defective ATP production. We describe how the 'rotor free-wheeling' causes this F1FO-ATPase dysfunction in primary congenital hypothyroidism.

Automated summary

A recent study by Ganetzky et al. has discovered a de novo heterozygous variant in the catalytic subunit of mitochondrial F1FO-ATPase, which is found to be the main cause of an autosomal dominant syndrome associated with defective ATP production. This article describes how the dysfunction of F1FO-ATPase in primary congenital hypothyroidism is caused by the 'rotor free-wheeling'.