Cellular Regulation of Sodium-activated Potassium Channels

NIH RePORTER · NIH · R01 · $366,406 · view on reporter.nih.gov ↗

Abstract

Human mutations in KCNT1, the gene for the Slack Na+-activated K+ channel result in several different childhood epilepsies, including Malignant Migrating Partial Seizures in Infancy (MMPSI) and Autosomal Dominant Frontal Lobe Epilepsy (ADNLFE). These mutations are gain-of-function mutations that result in enhanced channel opening. Although the seizures may abate with adulthood, all disease-causing Slack mutations are associated with very severe intellectual disability. The intellectual deficits may result from the fact that the large intracellular C-terminus of Slack channels interacts with several cytoplasmic signaling molecules, including Phartr-1, Fragile-X Mental Retardation protein (FMRP) and Cytoplasmic FMRP-Interacting Protein (CYFIP1). The two latter proteins are well known regulators of mRNA translation in neurons. We will record from cortical neurons in cultures and in brain slices from mice expressing the human mutation R455H Slack, to determine how the firing patterns of neurons are altered to produce increased excitability, interictal spikes and spontaneous seizures. We will test the actions of a novel inhibitor of Slack channels to determine whether it reverses the effects of the mutation on neuronal firing and seizures and as well as altered patterns of behavior in the R455H mutant animals. Finally we will determine whether the interactions of Slack channels with their cytoplasmic signaling partners are disrupted in the mutant animals, and whether the ability of activation of Slack channels to modulate mRNA translation in neurons is compromised. This work will provide a biological basis for treatment of these devastating diseases and provide potential lead compounds for therapeutic intervention.

Key facts

NIH application ID
10113677
Project number
5R01NS102239-04
Recipient
YALE UNIVERSITY
Principal Investigator
LEONARD K KACZMAREK
Activity code
R01
Funding institute
NIH
Fiscal year
2021
Award amount
$366,406
Award type
5
Project period
2018-03-01 → 2023-02-28