Japan Team Fixes Mutated Gene to Cause Dystrophy
Kyoto, Nov. 27 (Jiji Press)--A research team led by Kyoto University has succeeded in fixing a mutated gene that causes Duchenne muscular dystrophy by using induced pluripotent stem cells, an achievement that would help develop an effective treatment for the currently incurable disease.
Akitsu Hotta, assistant professor at the Kyoto University Center for iPS Cell Research and Application, and his colleagues announced the achievement in an article published online by the U.S. journal Stem Cell Reports.
Duchenne muscular dystrophy is a severe muscle-degenerative disease caused by a mutation in the dystrophin gene that inhibits the production of a protein that is a key structural component of muscle tissue.
The gene is made up of 79 exons, each of which carries genetic information. The team created iPS cells from cells collected from a Duchenne muscular dystrophy patient whose dystrophin gene lacks the 44th exon.
Trying three different gene correction methods in the iPS cells, the team found inserting the missing exon the most effective approach, as it was confirmed that the exon-inserted iPS cells produced protein after being developed into skeletal muscle cells, meaning the gene's normal function was restored, the researchers said.
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