Genes are instructions to make proteins, which carry out important functions in the cells which make up the different organs in the body. The chemical component of genes is DNA. When a person has a fault in a gene which makes a protein important in the heart, this can interfere with the way cells work and lead to cardiomyopathy. In cardiomyopathy, patients have one healthy copy and one with the gene fault.
Gene therapy will depend on the type of genetic fault a person has, and the way it acts to change the protein function. Gene faults act in one of two main ways:
- The fault results in loss of a protein. In this case, the treatment will either aim to replace the gene (gene replacement) or to make the healthy copy make more protein. This may involve packaging the correct genetic material into a vehicle or ‘vector’, and delivering it to target cells in the heart. There are different types of vectors.
- The fault changes the gene’s instruction to make a protein, so the protein doesn’t work as it should. In this case, gene therapy will aim to correct the faulty copy of the gene (gene editing or silencing). These approaches could either switch off a faulty gene, insert new genetic material to repair the fault, or edit the specific DNA fault. There are different gene editing techniques under development by CureHeart scientists and others. For example, CRISPR technology locates the target DNA and cuts it at the precise location required. A newer technology, Base Editing, discovered by a member of the CureHeart team, allows a specific spelling mistake to be corrected.
It will also be important to decide on a treatment goal, and to understand the proportion of cells which would need to be corrected to improve symptoms or progression.