We had a meeting on Tuesday to discuss Chiane’s genes because the Gene results came in.
The MLH1 gene provides instructions for making a protein that plays an essential role in DNA repair. This protein fixes mistakes that are made when DNA is copied (DNA replication) in preparation for cell division. The MLH1 protein joins with another protein, the PMS2 protein, to form an active protein complex. This protein complex coordinates the activities of other proteins that repair mistakes made during DNA replication. The repairs are made by removing a section of DNA that contains mistakes and replacing the section with a corrected DNA sequence. The MLH1 gene is a member of a set of genes known as the mismatch repair (MMR) genes. When the MLH1 gene is mutant, these mutations prevent the production of MLH1 protein or lead to an altered version of this protein that does not function properly. When the MLH1 protein is absent or ineffective, the number of mistakes that are left unrepaired during cell division increases substantially. If the cells continue to divide, errors accumulate in DNA; the cells become unable to function properly, and as these unrepaired cells multiply and divide it turns in to a form of a tumor, which turns in to cancer.
When the MLH1 gene is out of sequence, as described above, it is called Lynch syndrome.
After months and months of refusing to give up, it has become clear that Chiane does not have Li Fraumeni syndrome. as previously though, but Lynch Syndrome. It’s been rubber stamped. The MLH1 gene has been tested in her blood and in the tumor, with staggering results. All fingers are pointing towards this one gene based on all the results recieved.
This is a huge concern to us. Gene sequence can not be fixed. What can be changed though, is the markers and the proteins of genes. After tomorrows meeting with GOSH (to discuss her MRI results), our focus will turn towards the MLH1 gene and treating the protein levels/ markers of this gene. If we don’t alter it, her cancer will come back. So far, only the symptome has been dealt with. The cause of her cancer is still not fixed; unless we fix the gene – Chiane will be at high risk of relapsing. We will let you all know tomorrow, the MRI results.