Mutagenic stress modulates the dynamics of CTG repeat instability associated with myotonic dystrophy type 1.

ABSTRACT: The molecular basis of the myotonic dystrophy type 1 is the expansion of a CTG repeat at the DMPK locus. The expanded disease-associated repeats are unstable in both somatic and germ lines, with a high tendency towards expansion. The rate of expansion is directly related to the size of the pathogenic allele, increasing the size heterogeneity with age. It has also been suggested that additional factors, including as yet unidentified environmental factors, might affect the instability of the expanded CTG repeats to account for the observed CTG size dynamics over time. To investigate the effect of environmental factors in the CTG repeat instability, three lymphoblastoid cell lines were established from two myotonic dystrophy patients and one healthy individual, and parallel cultures were conc

SUBMITTER: Pineiro E 

PROVIDER: S-EPMC290266 | biostudies-literature | 2003 Dec

REPOSITORIES: biostudies-literature