In its simplest terms, a cell is like a fried egg. The yolk is the nucleus – where the DNA is stored – and the white is cytoplasm, where proteins are made. In order for the cell to make a protein, the instructions that are in the DNA must be taken from the nucleus to the protein-producing machinery in the cytoplasm. The cell does this by creating a messenger molecule called RNA. It is thought that in DM the expanded repeats cause the RNA to become stuck in the nucleus. The “stuck” RNA then affects the ability of the cell to produce certain proteins.
There is a great deal of variation in the severity and symptoms of the condition between individuals. The exact reason for this variation is poorly understood and while it is thought to be in part caused by differences in the number of repeats that an individual has inherited, this does not appear to totally explain the variation. Prof Monckton and his colleagues have been studying the DNA of an unusual family who have symptoms in addition to those caused by myotonic dystrophy. They have found that this family has different types of DNA repeats within the DM1 gene.
Prof Monckton now wishes to expand his study. He will investigate if other families with variation in severity and symptoms also have these different repeats in the DM1 gene. If this is the case it could provide an explanation for why some individuals have a more severe condition.
This work will add to our understanding of the molecular basis of myotonic dystrophy and may, in the future be important in the development of therapies.
Project leader: Prof. Darren Monckton
Location: University of Glasgow
Duration of project: 3 years (starting August 2008)
Total project cost: £184,000
Official project title: Complex repeats in myotonic dystrophy type 1 and Charcot-Marie-Tooth disease
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