Leonard K. Kaczmarek, Prof. PhD

Professor of Pharmacology and of

Cellular And Molecular Physiology

Yale School of Medicine

Potassium channel regulation of synaptic transmission, mRNA translation and intellectual ability

Open for undergraduate and graduate students!

Neurons in the central nervous system generate a wide range of firing patterns and these are modified by sensory inputs and the activity of other neurons. This diversity of firing patterns is in major part determined by the expression of different types of potassium channels. There are over seventy genes that encode different types of potassium channels, and mutations in these genes result in conditions as diverse as ataxias, autism and neurodegeneration. Recent research has demonstrated that potassium channels have biological activities beyond simply regulating neuronal excitability. Their cytoplasmic domains can directly bind cytoplasmic signaling proteins including cell survival proteins and regulators of the cytoskeleton. This talk will describe several such interactions with a focus on mutations in the KCNT1 gene that encodes a sodium-activated potassium channel termed Slack. This channel interacts with the Fragile X Mental Retardation Protein (FMRP) and its binding partner CYFIP1 to regulate the translation of a subset of messenger RNAs. Human KCNT1 mutations result in very severe intellectual disability, as well as early-onset epilepsy. The talk will also describe the treatment of patients with antisense oligonucleotides to attempt to correct these conditions.   

Tuesday 13.1.2025

Zentraler Hörsaal Badestraße 9

12 s.t.