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.

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Local Woman Finds Drug Stash While Walking Dog

I saw it. It wasn’t visible from the street. It was down a bit before the massive playing field and wedged in a sunny spot between two trees. Whomever had put it there probably didn’t count on someone approaching it from the north side. Maybe they’d left it there at night?

I thought it a disposable nappy at first, wrapped in a supermarket bag. It made me angry as I stabbed at it with my hand, forced to bend over making my knickers slip off my bum, requiring a serious effort to hoik them back up. There was a rubbish bin only two metres away, why couldn’t they have put it in there? It was then I realised it wasn’t a nappy.  Wrapped in thick white paper within the bag, it was hard with a sloshing sound when I shook it. Suddenly it occurred to me that it could be drugs stashed there to be picked up later on. I tore a bit of paper back to reveal a glass jar with a thick milky white substance. I daren’t take the lid off. Maybe it was a first step in preparing crushed up pharmaceuticals in some toxic liquid, ready for the next person to dry it out or whatever? Then take it further by providing drugs for all and sundry to become addicted to, maybe even my children or grandchild?!

I couldn’t let this become the case. Feeling paranoid, I stuffed it in my jacket and walked briskly, an obvious jar shape looking like a droopy but firm third breast. I became aware of what was around me; a confused looking backpacker with a map, and a runner with poised bag waiting for her chihuahua to crap.  None appeared to have seen me, but I felt conspicuous with the blood rushing through my head with a whamp! whamp! whamp! in my ears.

I slunk along the tree line at the edge of the park. Panic made me throw myself under a bush when the chihuahua runner sprinted past me. I lay low for a while to catch my breath, especially since the impact of landing on the jar winded me a little. It then occurred to me that these substances could become explosives. They blow up houses and stuff don’t they? A new horror set in. I’d have to move very slowly and carefully until I reached home and got it to the police.
My god, I’m like a suicide bomber in the mean time. Everybody stay away!
My dog by now, must have thought I was completely bonkers. I stuck to the trees, getting dive-bombed by fantails. ‘Get out!’ I yelled at them. Didn’t they realise how serious this was? I got shit on three times in the process.

It dawned on me that I could have been spotted and the drug makers are following me, ready to take me down. It could be weeks before my rotting corpse was found in the bush. I removed the plastic bag carefully from the jar and began to hyperventilate in it,  nearly choking on my own spit in the process.
I had to carefully plot my course home without being detected, but if I stuck to the outside of the playing field like I was doing, it would take me all day. If I had my phone, I’d have called the police. They’d come in with sirens howling and save the dog and I, recovering the stash then putting us in the witness protection program. All would’ve been hunky dory.

I decided to leg it, bomb or no bomb. The dog thought it was Christmas. He’s never seen me run. Granted, it was no more than a slow jog that nearly killed me. In hindsight, the bomb may have been quicker and painless.
At home I thought I’d better have a closer look before I took the lethal cocktail to authorities.

Please accept this as a personal apology to the person whom left their kefir grains sitting in a warm spot while they went to the Saturday morning markets.

© Words by Paula M Cunniffe, New Zealand.
This article may be republished with permission from the author.

Photo credit: from https://www.quora.com/Which-regions-of-the-brain-are-damaged-the-most-by-heavy-methamphetamine-use.