- Growing up, I learned that members of my family had a form of muscular dystrophy called dysferlinopathy.
- Her leg muscles were less and less able to repair themselves and became weaker with time.
- In this article, I will demystify hereditary diseases and show what research is being carried out to treat them.
A piece of cake? Not quite
- The page with the chocolate cake recipe has a nice picture, but there is some information missing.
- The recipe says to preheat the oven and measure the flour, but the rest of the page is torn.
- In dysferlinopathy, which affects my family, the missing recipe is the protein that repairs the muscles of the arms and legs.
- There are different types of mutations.
- Some are caused by adding letters, like adding an ingredient to the recipe.
Repairing DNA
- Other hereditary diseases are dominant, meaning that a mutation in the DNA passed down from just one parent is enough to impair the production of a protein.
- As part of my research, I look at the DNA sequence of each dysferlinopathy patient to see where the error is.
- Prime editing is a version of CRISPR-Cas9, a technique that allows DNA to be cut at a particular location.
A step in the right direction
So why aren’t we hearing about Prime editing, when it could be used to treat a variety of diseases? Because the technology is not yet fully developed. At the moment we are able to repair DNA directly in cells in the laboratory, but we lack the means to deliver the two large proteins (Cas9 and the one that rewrites) to the cells to be treated (for example, to the centre of the affected muscles).
In other words, we have found the chocolate cake recipe, but it’s written on a page that is too large to fit in an email or put in an envelope. Many laboratories, including mine, are looking for an efficient and safe vehicle that will be able to deliver these proteins.
Camille Bouchard received funding from the Jain Foundation and the Fondation du CHU de Québec.
