We discovered that in the absence of cholesterol, NPC mutants display a lower pharyngeal pumping frequency and a longer duration between pumps than control N2 animals (see Figure 1). This is the progress we made in our collaborative research project with Perlara and investigation into the lysosomal disorder, Niemann-Pick Type C (NPC). Previous to this work, [...]
Niemann-Pick Type C is a rare developmental disorder affecting children. We explore the efficacy of new potential therapeutics with the ScreenChip System.
KCNQ Potassium Channels and C. elegans Pharyngeal Pumping: A Genetic and Behavioral Model for Cardiac Arrhythmia
Yoanne M. Clovis, Ph.D. | Humans have over 70 potassium channel genes, but only some of these have been linked to disease. In this respect, the KCNQ family of potassium channels is exceptional: mutations in four out of five KCNQ genes underlie diseases including cardiac arrhythmias, deafness, and epilepsy. In this technical note, we investigated the effect of mutations of orthologous KCNQ-like genes in the nematode C. elegans on electrical excitability using the NemaMetrix ScreenChip System.