You may have seen, in one of the many news outlets that have reported it this week, that there has been a major story in endometriosis. This is the story concerning the finding of a new genetic locus associated with endometriosis (if you’ve not read it yet, there’s a good report here).
But what does it all actually mean? Well let’s start at the beginning. Several groups of researchers from the US, UK and Australia have been looking at why some women get endometriosis and other don’t. As endometriosis runs in some families the best place to look is at your DNA. Your DNA is like the set of instructions that makes you, and even though you share around 99.99% of your DNA with any other person on this planet each person’s DNA is individual in some way. If you imagine your DNA as a book, it is divided into 23 ‘chapters’ we call chromosomes. In each chromosome we have hundreds, sometimes thousands, sets of instructions for making proteins, each instruction we call a gene. However, the instructions sometimes get corrupted which is what is known as mutation. A mutation in a gene (or set of genes) can cause it to stop working properly which can be bad news for your body as it can lead to cells going haywire and causing disease.
This is what we think happens in endometriosis, mutations occur that make certain cells behave in an unusual manner leading to disease presentation. The only trouble is finding the mutation/s responsible is a daunting task, a task that was taken on by the collaborative research team mentioned above. What they did was to look at the DNA of women with and without endometriosis and look for any errors common only to the women with endo.
What they found was a particular genetic variation on chromosome 7 that was associated with an increased risk of developing endometriosis. The trouble is the variation they found was not in a gene. If we go back to our analogy of DNA being like a book with instructions in, most of the ‘text’ in our DNA book is actually just rubbish that doesn’t contain any useful instructions (what is known as an ‘intronic region’), this is where the researchers found their variation, in a region dubbed, rather unpoetically, rs12700667. However, sometimes variations in these ‘rubbish’ regions can give us clues as to where to look for genes that are involved in endometriosis. For example, the authors of the paper identified two genes of interest, named NFE2L3 and HOXA10, in the abstract. HOXA10 is particularly important in this case as it is a major controller for the development of the uterus.
So what does this mean for endo patients? Well unfortunately it’s unlikely to will lead to any new cures or diagnostic methods anytime in the near future. What it will do though is help us better understand who is at risk from the disease and why is it passed along some family lines.
The original research was published in Nature Genetics, you can buy the full text article or view the abstract free here.