Propofol rescues voltage-dependent gating of HCN1 channel epilepsy mutants

Nature. 2024 Aug;632(8024):451-459. doi: 10.1038/s41586-024-07743-z. Epub 2024 Jul 31.

Abstract

Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels1 are essential for pacemaking activity and neural signalling2,3. Drugs inhibiting HCN1 are promising candidates for management of neuropathic pain4 and epileptic seizures5. The general anaesthetic propofol (2,6-di-iso-propylphenol) is a known HCN1 allosteric inhibitor6 with unknown structural basis. Here, using single-particle cryo-electron microscopy and electrophysiology, we show that propofol inhibits HCN1 by binding to a mechanistic hotspot in a groove between the S5 and S6 transmembrane helices. We found that propofol restored voltage-dependent closing in two HCN1 epilepsy-associated polymorphisms that act by destabilizing the channel closed state: M305L, located in the propofol-binding site in S5, and D401H in S6 (refs. 7,8). To understand the mechanism of propofol inhibition and restoration of voltage-gating, we tracked voltage-sensor movement in spHCN channels and found that propofol inhibition is independent of voltage-sensor conformational changes. Mutations at the homologous methionine in spHCN and an adjacent conserved phenylalanine in S6 similarly destabilize closing without disrupting voltage-sensor movements, indicating that voltage-dependent closure requires this interface intact. We propose a model for voltage-dependent gating in which propofol stabilizes coupling between the voltage sensor and pore at this conserved methionine-phenylalanine interface in HCN channels. These findings unlock potential exploitation of this site to design specific drugs targeting HCN channelopathies.

MeSH terms

  • Binding Sites
  • Cryoelectron Microscopy
  • Electrophysiology
  • Epilepsy* / drug therapy
  • Epilepsy* / genetics
  • Epilepsy* / metabolism
  • HEK293 Cells
  • Humans
  • Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels* / antagonists & inhibitors
  • Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels* / chemistry
  • Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels* / genetics
  • Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels* / metabolism
  • Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels* / ultrastructure
  • Ion Channel Gating* / drug effects
  • Ion Channel Gating* / genetics
  • Methionine / genetics
  • Methionine / metabolism
  • Models, Molecular
  • Movement / drug effects
  • Mutation*
  • Phenylalanine / genetics
  • Phenylalanine / metabolism
  • Polymorphism, Genetic
  • Potassium Channels* / chemistry
  • Potassium Channels* / genetics
  • Potassium Channels* / metabolism
  • Potassium Channels* / ultrastructure
  • Propofol* / chemistry
  • Propofol* / pharmacology

Substances

  • HCN1 protein, human
  • Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels
  • Methionine
  • Phenylalanine
  • Potassium Channels
  • Propofol