MTHFR Gene Mutation pathology

At home test kit - buccal swab (inside your cheek).

Once the laboratory receives your sample, it takes 7-10 days to process results.

This tiny snippet of DNA plays a surprisingly big role in your overall health - especially when it comes to metabolism, hormones, detoxification, and how your body processes nutrients.

In fact, more than 50% of the global population carries at least one MTHFR gene variant - with some people experiencing reduced enzyme function that can impact everything from nutrient absorption to insulin sensitivity.

What Is the MTHFR Gene?

MTHFR stands for methylenetetrahydrofolate reductase - a key enzyme your body uses to convert folate (a B vitamin found in foods like spinach, liver, and eggs) into its active form. This process, called methylation, affects almost every system in the body.

MTHFR mutations, combined with elevated homocysteine, can impact metabolic health in several ways:

• Insulin Resistance: Homocysteine interferes with insulin signalling, making it harder for your cells to absorb glucose. Over time, this leads to chronically elevated insulin, weight gain, and inflammation.
• Hormonal Imbalances: Poor methylation can impair oestrogen clearance via the liver, contributing to PMS, fibroids, endometriosis, and symptoms of perimenopause.
• Fatty Liver: Inadequate methylation can reduce the liver’s ability to clear fats and toxins, increasing the risk of non-alcoholic fatty liver disease (NAFLD).
• Nutrient Deficiency: Impaired folate and B12 metabolism affects DNA replication, red blood cell production, and mitochondrial energy output - leaving you feeling fatigued and foggy.

At AstonRX, we believe in understanding your unique biology - not working against it. Your genes aren’t your destiny, but they are part of your story. Identifying MTHFR variants and addressing methylation imbalances is a powerful step toward improving energy, metabolic function, mental clarity, and hormonal health.

Because when your body can methylate efficiently, everything works better - from how you burn fat to how you feel every day.

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