Dmk Synthesis

The nonmutated form of DMPK functions in the production of protein kinase serine; this enzyme plays a role in intracellular communication and in the regulation of myosin phosphate. When DMPK is mutated, the proteins CUG-BP1, MBNL1 and INSR are displaced causing the splicing of troponin pre-mRNA which causes malfunctions in the cardiac conduction system, dominance of a chloride channel that causes myotonia, dominance of an insulin receptor that affects the sufficiency of insulin, and dominance of a tau protein that alters cognitive function (Cho and Tapscott, 2006). In a study by Klesert, Otten, Bird, and Tapscott (1997), a northern blot analysis was done to determine the amounts of DMPK and DMAHP (DM-associated homeo domain protein) present