Gene editing potential treatment for rare muscular dystrophy LGMD D2 developed

( From left to right ). Jorge Espinosa, Águeda Blázquez and Rubén Artero. Researchers from the IIS La Fe of Valencia and the Centre for Network Biomedical Research in Rare Diseases (CIBERER), in collaboration with the BIOTECMED Institute of the University of Valencia and the INCLIVA Health Research Institute, have managed to correct with gene editing technology CRISPR-Cas9 mutation of the gene causing LGMD D2 muscular dystrophy in cells of patients affected by this disorder, also known as transportin muscular dystrophy. Of the approximately 100 cases of this ultra-rare disease that are known in the world, 90 are located in Spain. The results of this research are presented as a potential treatment for this disease. The disease is characterised by progressive muscular paralysis with a wide variability regarding the age of onset, evolution and severity. The gene that carries the mutation that causes this disease (TNPO3) encodes a protein that is responsible for introducing other proteins related to the metabolism of nucleic acids into the cell nucleus and is also involved in other diseases such as HIV infection (AIDS).