Pathomechanisms of human diseases

Monogenetic diseases provide a direct link between a change in protein function to cell and organ dysfunction. Studying monogenetic diseases often permits identification of cellular roles of ion channels. Moreover, disease-causing mutations usually affect important functions of the affected proteins, and analysis of the functional consequences of such mutations thus provides novel insights into the molecular determinants of protein functions.Monogenetic diseases can be studied at the molecular, cellular and organ level in knock-in animals of the respective gene. Understanding the pathomechanisms of monogenetic diseases permit prediction of novel therapeutic approaches that can be tested in cell and organ preparations of these animals.In the past, we have studied monogenetic disease affecting muscle excitability (1-6), renal salt secretion (7), inner ear function (8,9), aldosteronism (10,11) as well as epilepsy (12,13), episodic ataxia (14,15) and migraine.