A mutation is a little change in DNA. DNA is what makes up people and plants and everything in the world. A mutation can be little spelling mistakes within DNA, parts of DNA going missing or sometimes extra DNA.
When a tiny baby is developing its body will make mistakes with the DNA – that happens to everybody all the time! We don’t think that CMN is caused by anything that the Mum or the Dad did or didn’t do, it was just a chance mistake.
When babies are developing, cells are dividing and making new cells, so when those mutations happen, they quite often don’t have any effect on us. However, sometimes they are in very important genes.
Some years ago, many people had described lots of different little mutations in CMN, but we didn’t know if any of them had actually caused the CMN or if they were just in this CMN.
What we discovered, leading up to a paper we published in 2013, was what we felt confident was the cause of CMN. We were able to find the same mutation in either two different models, two different CMN in the same person or even in any problems in the brain in those people! That told us that the mutation we were looking at was likely to be the cause.
If you find the same mutation, in more than one place, in the same person, it is very unlikely to have happened by chance. Instead, it suggests that the cells have all developed from one original cell which had a mutation and then gave rise to the moles and to the brain problems.