Date: 29th January 2020
Article in brief:
Duchenne muscular dystrophy (DMD) is a genetic disorder characterised by progressive muscle degeneration and weakness due to the alterations of a protein, dystrophin, that helps keep muscle cells intact. Now scientists have developed a CRISPR-based gene therapy that may provide permanent relief for those suffering from DMD.
DMD affects about one in 5,000 males at birth, and the average life expectancy although increasing is around 26 years. Frameshift mutations in the DMD gene, cause this terminal disease.
Previous work has shown that AAV-mediated life-long CRISPR genome editing in DMD mice models restored dystrophin expression and improved cardiac function without inducing serious adverse effects.
Now scientists from Munich, Germany, have used somatic CRISPR gene editing in living pigs to restore the DMD reading frame, resulting in expression of a shortened but largely functional dystrophin protein.
For more information see the press release from the Technical University of Munich.
Moretti, A., L. Fonteyne, F. Giesert, P. Hoppmann, A. B. Meier, T. Bozoglu, A. Baehr, C. M. Schneider, D. Sinnecker, K. Klett, T. Fröhlich, F. A. Rahman, T. Haufe, S. Sun, V. Jurisch, B. Kessler, R. Hinkel, R. Dirschinger, E. Martens, C. Jilek, A. Graf, S. Krebs, G. Santamaria, M. Kurome, V. Zakhartchenko, B. Campbell, K. Voelse, A. Wolf, T. Ziegler, S. Reichert, S. Lee, F. Flenkenthaler, T. Dorn, I. Jeremias, H. Blum, A. Dendorfer, A. Schnieke, S. Krause, M. C. Walter, N. Klymiuk, K. L. Laugwitz, E. Wolf, W. Wurst and C. Kupatt (2020). “Somatic gene editing ameliorates skeletal and cardiac muscle failure in pig and human models of Duchenne muscular dystrophy.” Nature Medicine.