Genetics

DM1 is caused by an expansion of DNA: this means that a specific triplet sequence is repeated too many times in the DMPK gene.  The varying severity in people with DM1 can be explained through genetic diagnosis; For example the greater the size of the expansion (or repeat number) the more severe the symptoms are.  In addition, the size of the DNA expansion increases with age making it hard to assess how the disease will progress.  The severity of the disease can be best determined by the expansion size at the onset of the disease.

 

OPTIMISTIC will use genetic analysis to:

  • Work towards a prognostic tool that can estimate the DNA expansion size at birth.
  • Identify patients carrying varying repeats within the DNA expansion.
  • Assess the relationship between the size of the DNA repeat, age of onset of the disease and severity of disease.
  • Increase understanding of the genetic mechanism of DM1 and how this relates to the phenotype.