Research report 2008 - Max Planck Institute for Brain Research
Dysfunctions of inhibitory neurotransmission as major causes for neurological diseases
Eulenburg, Volker; Betz, Heinrich
Neurochemie (Prof. Dr. Heinrich Betz)
MPI für Hirnforschung, Frankfurt/Main
SummaryGlycine and GABA are the two principal inhibitory neurotransmitters in the mammalian central nervous system. Dysfunctions of inhibitory neurotransmission are major causes of neurological diseases like epilepsy or a predominantly spinal form of neuronal hyperexcitability, hyperekplexia. Here, the analysis of genetically modified mice revealed two novel disease genes associated with malfunctioning of inhibitory synapses, the collybistin and the glycine transporter 2 genes. Genetic screening of human patients established mutations in both genes as causal for human disease.