CTG repeat analysis in lymphocytes, muscles and fibroblasts in patients with myotonic dystrophy

The mutation responsible for DM has been identified as the amplification of a polymorphic (CTG)n repeat in the 3' untranslated region of the myotonin proteinase gene. To examine somatic instability of the repeat, we studied tissue variability of the CTG expansion of three mesodermally derived tissues: lymphocytes, cultured fibroblasts and muscle cells. In six patients with adult onset DM, the repeat region was larger in skeletal muscles and fibrolasts as compared to lymphocytes. Our findings indicate that somatic CTG instability between examined tissues might take place postnatally by a selection mechanism in lymphocytes.