Quantitative Changes in the Mitochondrial Proteome of Cerebellar Synaptosomes From Preclinical Cystatin B-Deficient Mice
Katarin Gorski, Albert Spoljaric, Tuula A. Nyman, Kai Kaila, Brendan J. Battersby, Anna‐Elina Lehesjoki
Abstract
-deficient mice, and propose that early mitochondrial dysfunction is important to the pathogenesis of altered synaptic function in EPM1. A decreased sodium- and chloride dependent GABA transporter 1 (GAT-1) abundance was noted in synaptosomes with CSTB deficiency, but no functional difference was seen between the two genotypes in electrophysiological experiments with pharmacological block of GAT-1. Collectively, our findings provide novel insights into the early onset and pathogenesis of CSTB deficiency, and reveal greater complexity to the molecular pathogenesis of EPM1.
Topics & Concepts
Progressive myoclonus epilepsyBiologyPathogenesisAtaxiaNeurodegenerationNeuroscienceLafora diseaseMyoclonusCerebellumDiseasePathologyImmunologyGeneticsMedicinePhosphatasePhosphorylationGlycogen Storage Diseases and MyoclonusGenetics and Neurodevelopmental DisordersAmino Acid Enzymes and Metabolism