Dynamic mutations involve expansion of the number of repeat units
consisting of three or more nucleotides in tandem (i.e. adjacent to one
another) present in a gene or in its neighborhood. These repeats may occur
in different genes and may code for different aminoacids.
According to expansions sizes, it is possible to have unaffected individuals
that are carriers of a pre-mutation. Instability of triplet repeat size can lead
to gradual expansion through generations, a phenomenon called
anticipation. Genetic anticipation is characterized by the reduction in the
age of disease onset and by a worsening of symptoms in affected
individuals in successive generations.
This work describes dynamic mutations giving emphasis on triplet repeats
diseases, making the parallel with disease anticipation. Treatment
strategies that have been developed during the last years are also
discussed.info:eu-repo/semantics/publishedVersio