TY  - JOUR
AU  - Cardoso, Inês Lopes
PY  - 2018
DA  - 2018/07/27
TI  - Experimental DNA- or RNA-Directed Therapies for Trinucleotide Repeat Disease
JO  - OBM Genetics
SP  - 025
VL  - 02
IS  - 03
AB  - 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. Depending on expansion size, unaffected individuals can be carriers of a pre-mutation. Instability of triplet repeats can lead to gradual expansion through generations and accumulation of a certain number of repeats can lead to the consequent development of disease. The increase in the number of triplet repeats from one generation to the next, resulting from repeat instability, leads to the reduction in the age of disease onset and worsening of symptoms in affected individuals in successive generations.
There is still no treatment for this type of diseases, however, several strategies are under study.
This work describes treatment approaches for triplet repeat expansion diseases that have been developed during the last years, having as target DNA or RNA molecules. Some of these strategies might be used in the future as gene therapy of trinucleotide repeat disorders.
SN  - 2577-5790
UR  - https://doi.org/10.21926/obm.genet.1803025
DO  - 10.21926/obm.genet.1803025
ID  - Cardoso2018
ER  -