Correcting nonsense mutations with CRISPR/cas9?

Correcting nonsense mutations with CRISPR / Cas9?

Would it be possible to correct nonsense mutations with CRISPR/Cas9? Some patients with DMD have a point mutation (nonsense) that leads either to the absence or to the abnormal function of dystrophin. The objective of Professor Jacques P. Tremblay’s team is to develop therapies for DMD due to such mutations.

In the last three years, new variations of the CRISPR/Cas9 technology, called base editing, permit to change a single nucleotide pair into another one. Professor Jacques P. Tremblay’s team will use this technology to correct the point mutation present in the MDX mouse model and 28 mutations detected in Canadian DMD patients according to the Canadian Neuromuscular Disease Registry database. Their knowledge and acquired experience will then subsequently be used to treat point mutations responsible for other hereditary neuromuscular diseases.


Professor Jacques P. Tremblay will be on Découverte on November 3 at 6:30 pm on Radio Canada. Découverte|Radio-Canada 


The human DNA

The human DNA present in each of our cells contains all the genetic information that we have inherited from our parents (e.g., eye colour, hair colour), including mutations responsible for hereditary diseases. 

This DNA is formed by only four chemical molecules called nucleotides:

  • A: adenosine
  • T: thymidine
  • C: cytosine
  • G: guanine

The DNA is a double helix formed by nucleotide pairs. Half of our genome originates from our mother and the other half from our father. We have received 3.2 billion nucleotide pairs from each parent. Genes coding for proteins that make our cells are sequences of these nucleotide pairs.


What is CRISPR/Cas9 technology?

CRISPR/cas9 technology is a technology that was first identified in bacteria. Bacteria were using this to cut up the genome of the viruses that were infecting them. About five years ago, researchers noticed that this technology allows not only to cut up virus genes but that it can also cut genes in animals, plants and especially in humans. Learn more here > Genetic engineering offers real hope of advancement.


About Professor Jacques P. Tremblay

Jacques P. Tremblay received a B.Sc. in Biochemistry from McGill University in 1970, and a Ph.D. in Neuroscience from UCSD (University of California in San Diego) in 1974. From 1975 to 1976, he was a postdoctoral fellow at the Laboratory of Neurobiology of l’Hôpital de L’Enfant-Jésus. His group is currently using CRISPR/Cas9 technology to correct the dystrophin gene, creating an additional deletion to produce a hybrid exon of the dystrophy gene, which not only restores the expression of dystrophin but also produces dystrophin with a regular structure.

To learn more about the work of Professor Jacques P. Tremblay: Centre de recherche du CHU de Québec


Interview with Jacques Tremblay

We wish to connect you, the DMD community, with the professors. We hope this video will be a good medium for understanding how CRISPR/Cas9 technology work, as related to DMD.

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