Apr
Congenital myasthenias are inherited disorders characterized by muscle weakness caused by mutations in genes that contain the information for making proteins that are involved in the communication between nerves and muscle cells. For example, some individuals with congential myasthenia have mutations in the genes that contain the information for making the subunits of a protein that is expressed by muscle cells and that binds a molecule known as acetylcholine, which is the transmitter by which nerves convey signals to the muscle. In a new study, Andrew Engel and colleagues, at the Mayo Clinic, Rochester, determined how a mutation in the gene containing the information for making the delta-subunit of the receptor for acetylcholine, which they detected in a patient with congenital myasthenia, might lead to the disease. The mutation was found to cause a change in the structure of the acetylcholine receptor, leading to slower opening of the receptor, which in turn slowed ion flow through the channel and thus impaired muscular function.
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TITLE: Congenital myasthenia-related AChR-delta subunit mutation interferes with intersubunit communication essential for channel gating
AUTHOR CONTACT:
Andrew G. Engel
Mayo Clinic, Rochester, Minnesota, USA.
http://www.mayo.edu
View the PDF of this article at: http://www.the-jci.org/article.php?id=34527
Source:
Karen Honey
Journal of Clinical Investigation