A full-length mutant human myotonin protein kinase (MtPK) cDNA having
a 46 expanded CTG-repeat size or a wild type containing 5 CTG repeats
was stably transfected into mouse C2C12 cell line in order to explore
the effects of the expansion mutation of trinucleotide repeats in the
3' untranslated region on developing myogenic cells. Each established
clone expressed a human 70 kDa MtPK protein without proteolytic proces
sing. Differentiation experiments indicated that stable mutant MtPK cD
NA-transformants suppressed myogenic differentiation, whereas wild-typ
e transformants exhibited almost normal myogenesis. The disturbance of
the expression of neuronal nitric oxide synthase, a mediator of myobl
ast fusion, suggests that signal transduction system might be involved
in the muscle manifestations of mutant MtPK.