THURSDAY, Dec. 11, 2003 (HealthDayNews) -- The loss of key proteins seems to be linked to the symptoms seen in the most common form of adult-onset muscular dystrophy (MD), says a study in this week's issue of Science.
University of Florida and University of Rochester scientists say symptoms of myotonic dystrophy seem to be caused by a form of "genetic stuttering" that blocks the actions of these key proteins in cells.
The proteins, which help eye and muscles cells mature, stick to warped copies of RNA molecules that build up in a cell's nucleus. This prevents the proteins from carrying out their normal functions. Normally, RNA transmits information from DNA to trigger protein production.
The researchers studied more than 100 mice bred to lack the gene associated with producing one form of the "muscle-blind" protein. These mice developed the muscle and eye abnormalities that are characteristic of myotonic dystrophy.
The mice also developed other features associated with myotonic dystrophy, including defects in proteins that are essential for normal heart function.
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Here's where you can learn more about myotonic dystrophy.
