Establishing How A Genetic Mutation Can Cause Disease

Main Category: Genetics
Also Included In: Infectious Diseases / Bacteria / Viruses
Article Date: 09 Apr 2008 - 8:00 PDT

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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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Article adapted by Medical News Today from original press release.
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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