It was after a visiting her GP and undertaking tests for the MTHFR gene that Aussie nutritionist and mum Mary-Anne Bennett started to ask questions around her family’s history of chronic disease. She set out on a journey to find some answers – here’s what her genetic testing experience revealed.

Mary-Anne had long suffered from debilitating pain before receiving her fibromyalgia diagnosis at 46 years of age. The now 58-year-old was tested for the MTHFR gene the following year, sparking the nutritionist’s interest in genes and how they can affect our lives.

“It wasn’t until I went to university that I started to learn about genes and the impact that they could have on your risk of developing chronic disease and that MTHFR was just 1 gene in the whole of the genome,” she says. “But I started to wonder if all of the chronic health conditions in my family- heart disease, Crohn's Disease, Scleroderma, depression, bipolar disorder, autism, ADHD- were gene-related." 

It was at 50-years-old that Mary-Anne undertook a Bachelor of Health Science in Nutritional and Dietetic Medicine, further prompting her to take a closer look at her own health. Now, having opened her own business, Adelaide Nutrition and Wellbeing, the Aussie mum is passionate about helping others live their best life.

“I help women just like me to get to the root cause of their long-term health issues and truly heal.”

What is the MTHFR gene?

You might be wondering what exactly the gene that Mary-Anne was tested for abnormalities in – and buckle up, because it’s a major one. The MTHFR gene, also known as methylenetetrahydrofolate reductase, plays a role in the health of our entire bodies from brain, heart and metal health right down to the creation of DNA. This gene provides what is essentially as instruction manual for our bodies to create MTHFR protein, and this is the stuff that helps us regulate folate. Now folate is essential for our survival, from forming DNA to helping us metabolise protein. But things can get a little pear-shaped depending on your genes – there are a number of mutations that are associated with MTHFR, and having just one of these mutations puts you at less risk for developing health conditions than having two variants. Let’s take a look at the two forms of mutations that can occur with this gene:

1. C677T: This is the most common mutation, affecting up to 40% of the US population, and is known for raising homocysteine levels – this is the stuff that raises our risk for heart attacks and strokes.
2. A1298C: This variant is a little behind in research as opposed to C677T, but one study found is could be found in up to 14% of Aussies. This mutation can affect our body’s absorption of nutrients, and as such, it’s important to prioritise getting adequate levels of vitamin B12 and B9 – also known as folate. 

So, what were the results for Mary-Anne? Let’s dive in.

“The major variations were in my methylation pathway- MTHFR was just one of many. I had major variations in my neurotransmitter pathways, hormone pathways, nutrient pathways and not surprisingly major issues with detoxification to name a few.”

What does this mean? The MTHFR variant simple means that the Aussie mum is at a higher risk for developing a number of conditions like high blood pressure, mental health disorders and even some kinds of cancer. 

The 58-year-old nutritionist says the results weren’t particularly unexpected given her health history, but informative nonetheless – Mary-Anne says the results motivated her to tackle some of the risk factors in her life.

“I had already been diagnosed with coeliac disease so finding that in my genes was no surprise,” she says. “My family risk of mental health disorders has helped me realise that I have to manage my stress and make sure I take my supplements to support my genes.”

Mary-Anne also found out she was at a higher risk of neurodegenerative disease – but, given the litany of other health concerns, she says it wasn’t her biggest worry. 

“And I know it’s popular right now because OMG Chris Hemsworth found out he is at increased risk of Alzheimer's disease – a homozygous variation in the APOE4 which means I am at the highest risk of neurodegenerative diseases,” she says. “Funnily enough, the Alzheimer's risk was the least of my problems and is not even on my radar.”

Certain genes are known to increase the risk for dementia – that includes Alzheimer’s disease – and the APOE4 gene that Mary-Anne tested positive for is one of the biggest genetic risk markers for the condition. Around 25% of the population carry one copy of this gene, while 3% carry both copies – but having the gene itself isn’t a guarantee of a later diagnosis for the disease, but it is a major risk factor.

The genetic test findings completely transformed the way Mary-Anne lived her life – from her diet to her environment.

“It changed everything,” she says. “I looked in depth at everything I was exposed to, and everything I was eating that could be having an impact on my genes and consequently on my health.

“I learnt that I was genetically predisposed to many issues, but my poor lifestyle- diet, stress, alcohol consumption and chronic exposure to chemicals was slowly killing me. Step by step I have transformed my lifestyle so that it is nothing like it used to be.” 

Mary-Anne’s not alone here – many find themselves making major changes to their lifestyle after undergoing genetic testing, because, while the concept and results may seem fatalistic, they’re anything but. Many of the testing results indicate a predisposed risk for diseases that we have the power to lower our risk for – and while we may not be able to completely remove the risks, in many cases, we aren’t powerless either. That’s why the Adelaide-based nutritionist let go of unhealthy habits and started eating better, sleeping better and getting to know her body’s needs.

“I now eat a diet that is mostly free of processed and packaged foods. Having coeliac disease means gluten-free for life, and also means I can stay migraine free,” she says. “I’m also dairy intolerant and have issues with histamine foods and oxalate foods. Exercise-wise, I now know that exercise for me is best in the morning not evening otherwise, I get wired and can’t sleep, all to do with my circadian rhythm and clock genes.” 

Mary-Anne encourages others to undertake genetic testing – and it doesn’t have to be a scary or negative thing. Contrary to popular belief, there are many changes we can make to improve our health and lower our risk for diseases – it’s not always written in the stars. The nutritionist says just knowing our chances can be enough to prompt us to make a change.

“When you understand your genetics, you can understand your risk and do something about it. It is so useful, they use it now to work out what types of chemotherapy and medications are better for some people than others,” she says. “It was the key to really being able to heal myself.