Computational Investigations of KATP Channel Pore Blockers

Abstract

Cantu syndrome is a rare disease affecting a small number of people worldwide. Characteristic disease features are distinctive facial features, hypertrichosis, cardiac abnormalities and lymphedema. This genetic disorder is caused by dominant gain-of-function mutations in the ATP-dependent potassium inward rectifier channel, KATP, that prevent channel closure. These channels consist of a sulfonylurea transporter subunit (encoded by the ABCC9 gene), and the pore-forming KIR6.1 subunit (encoded by the KCNJ8 gene).