Ordinarily words like genetics, genes and mutation would transport me back to year 12 biology and have me running a mile. Interestingly, recently I have been consumed by the research being conducted into what is essentially a genetic mutation of the enzyme that helps us convert folate. Stay with me here. Specialising in fertility and pregnancy gives me enormous insight into the physical and emotional struggles couples and singles go through on their journey to parenthood. Nothing is more heartbreaking than supporting a patient who may have miscarried or very sadly, given birth to a still born baby. This prompted me to delve deeper into the causation of such devastating events, leading me down a windy, convoluted path of genetic discovery. Most of us know that folate is extremely important for the first trimester of pregnancy and thus, women actively trying to conceive should begin folate supplementation 3 months prior to conception. Folate is vital for DNA replication and prevents a condition called spinia bifida in babies, a condition affecting the brain and spine. What we didn't know, up until very recently, is that up to 10% of the population has a genetic mutation of this meaning that our body loses it's ability to convert the folate we get through our food and supplements, into its active form, methyl folate. Meaning even though you may be taking a folate supplement, you may not be converting it properly and ultimately not absorbing it. MTHFR is a gene that acts like a switch, turning various processes in the body either on or off. MTHFR or Methylenetetrahydrofolate Reductase takes folate and methylates it into methylfolate. This may not seem like a big deal, but it is one of the most important functions in the body. This mutation is bring implicated in a huge array of conditions ranging from miscarriage, cardiovascular disease, mood disorders and autism . One study with 141 children and adults with autism, found that an astounding 98% of participants were found to have this defective gene. This gene is also important for B12 assimilation, important for our nervous system and mood. Studies have also linked this MTHFR gene mutation to debilitating conditions such as chronic fatigue syndrome and fibromyalgia. The implications of this research are potentially enormous. It is certainly a "watch this space" area of research. MTHFR genetic testing is relatively inexpensive, approximately $50. And could potentially be underlying a myriad of health concerns. I offer access to this test to applicable patients, alternatively discuss it with your GP, but keep in mind, this is an emerging area of research.