Date Published: 5 July 2012
Gene key to maintaining normal brain function
The gene dubbed the "stoned gene" was first discovered in fruit flies in the 1970s. When this gene was mutated, the fruit flies had problems walking and flying, which lead to the expression 'stoned' gene. Some years later the same gene was also found in mammals. Until recently scientists have not known precisely what the gene is responsible for and why it causes problems with physical functions when it mutates.
Scientists at Liverpool University have recently reported research indicating that the protein the gene expresses in mammals, called stonin2 (note: stonin2 is not the name of the gene, but is the name of the protein expressed by the 'stoned' gene), is responsible for retrieving 'packets' of chemicals that nerve cells in the brain release in order to communicate with each other. The inability of the gene to express this protein in the fruitfly study, suggests why the insect appeared not to be able to walk or fly normally.
The team used advanced techniques to inactivate stonin2 for short and long periods of time in cells grown in the laboratory. The cells used where from an area of the brain associated with learning and memory. They showed that without stonin2 the nerve cells could not retrieve the 'packets' needed to transport the chemicals required for communications between nerve cells.
That is, it seems that the protein stonin2 is necessary for communication between nerve cells in the brain and the 'stoned' gene is necessary for supply of stonin2.
Dr Stephen Royle, from Liverpool University's Institute of Translational Medicine, explained:
" Nerve cells in the brain communicate by releasing 'packets' of chemicals. These 'packets' must be retrieved and refilled with chemicals so that they can be used once again. This recycling programme is very important for nerve cells to keep communicating with each other.
_ We have shown that a protein called stonin 2 is needed for the packets to be retrieved. There is currently no evidence to suggest that the gene which expresses this protein is mutated in human disease, but any failure in its function would be disastrous. The research is another step towards fully understanding the complexities of the human brain."
Ref. to Paper:
Stonin 2 Is a Major Adaptor Protein for Clathrin-Mediated Synaptic Vesicle Retrieval Anna K. Willox, Stephen J. Royle, Current Biology (2012), doi:10.1016/j.cub.2012.05.048 http://bit.ly/QnXT6Z
Source: Liverpool University