Part 1: Your Genes, and the ‘Heart’ of the Matter

Not too long ago, this was me… Er… the one behind in the hammock of the first photo. Full of extra flesh and double chins and soooooo much sickness.

In that photo, I was 115kg and since starting a lifestyle change that was increasingly vegetarian, then fully committing to a plant-based diet at the beginning of the year. As I write this, I am at 97.6kg (and still going)… and I’ve been able to reduce many of my medications due to better health.

I was going to include all the info in this post, but I realise it’s more info than most people are likely to want to read in one sitting, so I shall write it in a series of posts. Each symptom I have, since having my DNA data analysed; relates back to my genes and their expression, and how I’ve been affected.

Other than the Psoriatic Arthritis, Fibromyalgia and Chronic Fatigue… I also have Asthma, chronic sinusitis, endometriosis and hereditary hemachromatosis, cholesterol/metabolic disorder, non-coeliac gluten intolerance, high blood pressure, AMPD1 deficiency, MTHFR issues, major depression and I’m currently going through menopause.

HOLY HELL!!! How have I survived? I’m so glad that none of our family have shown signs of pre-diabetes, or diabetes. My mother’s family have a long line of heart fatalities and depression. She died at age 49 of a heart attack. She wasn’t obese, but she was a smoker. The autopsy report said coronary thrombosis, coronary heart disease and ischemic heart disease. My father also has the latter two diagnoses in life… and his heart has actually compensated for a blocked artery by turning a nearby vein into an artery, effectively giving himself a ‘piggy-back’ bypass. Isn’t the body amazing? You can throw shit at it for years and it will do its best with what it gets, but only for so long. My parents have both been life-long smokers.

I’ve been taken off beta-blockers for my heart, Bisoprolol, initially given to me to counteract kidney damage from arthritis medication, by lessening the load on my heart. My kidney and liver levels have since returned to normal since eating a plant-based diet, but my blood pressure has gone down from levels such as 180/100 to 105/70. My blood pressure medication, Cilazipril, has been halved, and my doctor anticipates that the need for it will continuously decrease because of how well I’ve responded to the new way of eating.

The hereditary hemachromatosis means I store iron. They don’t call it the Viking Curse for nothing. Studies say they believe this genetic anomaly came about during the iron age, especially when the Vikings ate and cooked with ironware. It did benefit them though. In battle when they suffered severe blood loss, they recovered quickly where others would die. Not a curse ‘then’ perhaps, but it is now for many Viking and Celtic descendants. Even though I only have one copy of the gene, I have moderately high levels in my body. When the body can’t release it due to some missing enzyme that breaks it down, it stores around the organs and joints, causing ‘arthritis’ like symptoms, which could be another reason why psoriatic arthritis is common in Viking and Celtic descendants. Organ damage, such as cirrhosis of the liver, and heart issues are usually the first sign that there’s something wrong before being tested for hemachromatosis.

Enter my mother’s family heart problems. In women, it’s only revealed later in life when they stop menstruating, however men succumb earlier. The only antidote to avoid organ damage is regular venesection, or ‘blood letting’ to bring the iron stores in the body back to normal levels. So having my DNA tested, and run through Promethease, may seem like a horrible thing to some, but doing so has literally saved my life and will prolong it substantially. Unless I’m hit by a bus.

Which brings me to mention the MTHFR connection, really a topic in itself.
Methylene-tetrahydrofolate Reductase. In short, it’s a section of genes in the DNA strand responsible for the enzymes that involve the absorption of folate, making it available for use in the body. Folate is essential in terms of development. Think neural tube defects in babies which has been widely talked about and the importance of having pre-natal vitamins to support optimal brain health for your developing baby. Depending on the number of genes with deletions in their coding, determines how severely the person is affected. Luckily I only have one copy of the most common genes involved, C677T. My father recently had his DNA tested, and he also has the same copy of the gene.

Quoting Labtests online, here is what they have to say…

The methylenetetrahydrofolate reductase (MTHFR) gene contains the DNA code to produce the MTHFR enzyme. This test detects two of the most common mutations.

When there are mutations or variations in the MTHFR gene, it can lead to serious genetic disorders such as homocystinuria, anencephaly, spina bifida, and others. The MTHFR enzyme is critical for metabolizing one form of B vitamin, folate, into another. It is also part of the process that converts homocysteine into methionine, an important building block for many proteins.

If someone has increased levels of homocysteine, that means the body is not processing it properly. One cause of that could be a mutation in the MTHFR gene, causing homocystinuria. While at least seven unique MTHFR mutations have been found in people with homocystnuria, there are two relatively common DNA sequence variants, known as single nucleotide polymorphisms (SNPs), that are tested. The two MTHFR variants are called C677T and A1298C, and individuals can inherit one or both variants. These SNPs result in changes in the DNA (or mutations) that are associated with decreased MTHFR activity and increased homocysteine levels in the blood, which may increase the risk of premature cardiovascular disease (CVD), formation of inappropriate blood clots (thrombosis), and stroke.

Approximately 5-14% of the U.S. population is homozygous for C677T, meaning that they have two copies of it. There is some ethnic variability in the frequency, with the highest being in those of Mediterranean ancestry and the lowest in those of African ancestry.

The C677T variant results in a less active form of the MTHFR enzyme and reduced ability to process folate and homocysteine. When a person has two copies of the MTHFR C677T gene mutation (homozygous) or one copy of MTHFR C677T and one copy of A1298C (compound heterozygous), decreased MTHFR enzyme activity slows down the homocysteine-to-methionine conversion process and can lead to a buildup of homocysteine in the blood.

The increase in homocysteine is often mild to moderate but will vary from person to person depending upon the amount of MTHFR enzyme activity. Even if a person has two copies of the MTHFR mutation, that person may not develop high homocysteine levels since adequate folate intake can “cancel out” the effect of the MTHFR mutation.

Results of some studies suggest that high levels of homocysteine in the blood may contribute to risk of CVD by damaging blood vessel walls and promoting formation of plaque (atherosclerosis) and inappropriate blood clots. However, a direct link between homocysteine levels and cardiovascular disease or thrombotic risk has not been found. For more on this, see the article on Homocysteine.

A simple google search will provide you with more information about the symptoms of having less bioavailable folate in the body, but at its worst it can cause intellectual disability resembling autism. At the other end and in between, it can cause many symptoms more commonly expressed by terms of ‘illnesses’ such as allergies, depression/mental health and autoimmune disorders, the impaired ability to absorb some medications leading to toxicity in the body, and heart issues. Ding! Ding! Ding! 

I realise I will need to provide references for my information, and I shall add these as I come across them, so never fear. 

See you in part 2…

Copyright words and images by Paula Cunniffe.