How a Protein Dysfunction Causes a Complex Neurological Disorder
Jülich, 22 April 2020 – In certain genetic disorders in humans, only the amino acid sequence of a single protein is changed. Such monogenetic disorders, although rare, provide unique insights into the changes that protein dysfunctions bring about in cell and organ functions. This allows human diseases to be investigated on all scales – from single proteins to a patient as a whole. A team led by physiologist Prof. Christoph Fahlke from Jülich’s Institute of Biological Information Processing (IBI-1) has investigated a monogenetic disorder of this kind and revealed how a mutation in a gene for a glutamate transporter causes such complex neurological symptoms. The results of their recent study were published in the journal Brain Communications.