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Mice Lacking RyR2 Learn The Down Side Of Being Big Hearted

Date:
April 13, 2007
Source:
Journal of Clinical Investigation
Summary:
Mutations in the gene that makes the protein RyR2 have been associated with several forms of aberrant heart function in humans. However, the molecular reasons why these mutations are associated with impaired heart function have not been determined and many questions remain about how this protein is regulated.
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Mutations in the gene that makes the protein RyR2 have been associated with several forms of aberrant heart function in humans.

However, the molecular reasons why these mutations are associated with impaired heart function have not been determined and many questions remain about how this protein is regulated. For example, in vitro studies have shown that a protein known as calmodulin (CaM) inhibits RyR2 function, but the physiological significance of this was not known.

In a study that appears online on April 12, in advance of publication in the May print issue of the Journal of Clinical Investigation, Gerhard Meissner and colleagues from the University of North Carolina at Chapel Hill, found that mice expressing only a mutant form of RyR2 that cannot bind CaM showed signs of cardiac hypertrophy (thickening of the walls of the heart) as early as 1 day after birth and died within 16 days of birth.

Further analysis indicated that cardiac muscle cells from these mice showed abnormal release of calcium from a cellular compartment known as the sarcoplasmic reticulum and that the heartbeat of these mice was substantially slower than the heartbeat of normal mice. This study indicates that CaM inhibition of RyR2 is crucial for normal cardiac function in mice, but it will be important to determine whether impaired CaM inhibition of RyR2 is associated with the human heart diseases linked to mutations in the gene that makes RyR2.


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Journal of Clinical Investigation. "Mice Lacking RyR2 Learn The Down Side Of Being Big Hearted." ScienceDaily. ScienceDaily, 13 April 2007. <www.sciencedaily.com/releases/2007/04/070412171539.htm>.
Journal of Clinical Investigation. (2007, April 13). Mice Lacking RyR2 Learn The Down Side Of Being Big Hearted. ScienceDaily. Retrieved May 29, 2015 from www.sciencedaily.com/releases/2007/04/070412171539.htm
Journal of Clinical Investigation. "Mice Lacking RyR2 Learn The Down Side Of Being Big Hearted." ScienceDaily. www.sciencedaily.com/releases/2007/04/070412171539.htm (accessed May 29, 2015).

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