Correcting Muscular Dystrophy Gene Mutations

Richard Liang 18’

Figure 1: This is an illustration depicting the difference between healthy muscle cells (shown on the right) and muscle cells affected by muscle dystrophy (shown on the left). Due to the degeneration of the muscle cells, they will appear much smaller than usual.

Figure 1: This is an illustration depicting the difference between healthy muscle cells (shown on the right) and muscle cells affected by muscle dystrophy (shown on the left). Due to the degeneration of the muscle cells, they will appear much smaller than usual.

Duchenne muscular dystrophy (DMD) is a severe form of muscle degeneration that can become lethal if it affects heart muscle. It is known to be caused by mutations in the X-linked dystrophin-coding gene and thus, there has been ongoing research in correcting these mutations. Currently, there is no effective treatment for this disease. Recently, in a study led by Yu Zhang from the Department of Molecular Biology in the University of Texas Southwestern Medical Center, a potential treatment to correct the responsible genetic mutations was developed.

A unique class 2 CRISPR effector known as Cpf1 was developed to correct the genetic mutations responsible for DMD. This molecule was administered to patient-derived stem cells and mice models with DMD in order to test the effectiveness of the treatment. The researchers used electrophoresis to compare the DNA of Cpf1 treated patient stem cells, untreated patient stem cells, and normal cells. The treated stem cells had DNA with similar bands to that of normal cells, indicating that Cpf1 was successful in correcting the genome of the patient cells. A similar experiment was done on mice with DMD and the same results were observed.

Immunohistochemistry, the process of using selective imaging antigens to observe biological tissues, was used to monitor the condition of the muscle cells in the mice models. Mice treated with Cpf1 exhibited normal muscle cell function while the untreated mice exhibited muscle fibrosis and inflammation. Future research involves implementing Cpf1 in clinical trials as gene correction treatments for DMD patients. Not only can this research lead to the development of an effective treatment for DMD, it can also provide a basis for the development of gene therapies for thousands of other genetic mutation-based diseases.

 

References

  1. Y. Zhang, et al., CRISPR-Cpf1 correction of muscular dystrophy mutations in human cardiomyocytes and mice. Science Advances 12 Apr 2017: Vol. 3, no. 4, e1602814 DOI: 10.1126/sciadv.1602814
  2. Image retrieved from: https://upload.wikimedia.org/wikipedia/commons/7/75/MuscularDystrophy.png
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