Failure to restore balance to the ER is associated with human disease.
To identify the underlying changes in gene expression in response to ER stress, researchers from Philadelphia, USA examined ER stress in human cells in the laboratory. The scientists found genes that were already known to play a role in the ER-stress response and uncovered several thousand genes that were not previously known to be involved. The genes encoding angiogenin, optineurin and sentaxin are of interest as mutations in these genes are now associated with various forms of MND. This finding is important because it shows that these genes are associated with ER stress and strongly implicate ER stress in these forms of MND. It may be possible that other mutated genes that cause MND may trigger ER stress without being a part of the process itself. If ER stress is a common feature of MND than it may be used to fight against it. If motor neurones have a problem because the ER stress response is constantly switched on, the next step is to try to find a way of switching it off.
Source: International MND research update - June 2010, Dr Justin Yerbury for MNDRIA