The Devastating Neurological Disease Caused by a Single Mutation.
Scientists from the University of Groningen in the Netherlands have uncovered the mechanism by which a single mutation causes the rare neurological disorder, Episodic Ataxia Type 6 (EA6). The mutation alters a single amino acid in a protein responsible for transporting the neurotransmitter glutamate across neural cell membranes. The mutation affects the functioning of the protein, reducing the transport rate and increasing ion transport. The researchers performed molecular dynamics simulations and found that a salt bridge is formed between the arginine amino acid and the lipids of the membrane, which slows down the movement of the elevator part of the protein. There is no simple way to remedy the effect of the mutation, and any drug affecting it will probably have serious side effects.