Volume 5 Issue 4

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Abby's Magazine - Volume 5 Issue 4 | Page 21 If you've heard of MTHFR and have no idea what it is and feel like you should, of if you've discovered that you have this gene c change and are shaking in your boots, this ar cle will help clear up your concerns and give you clear guidance on how to handle it for your best health. Wow, if ever a gene is having its day in the sun it's the MTHFR. My Facebook Live on the topic drew 20,000 views in 2 days. I get ques ons about this popular topic from most of my pa ents, and emails about it regularly. I'm not quite sure how MTHFR became so famous – perhaps it's the humorous acronym (look at it long enough if your brain doesn't automa cally fill in the missing le ers), the popularity of 23andme gene c tes ng, or the very real risks it carries. But clearly, there are a lot of ques ons about it. And it's an important gene, with significant consequences for some who have it. In this ar cle (and in the audio recording of the Facebook Live event, which you'll find posted below if you prefer to listen), I'm going to explain what MTHFR is, why it's important in your body, what it means if you have the gene c change, whether and how to get tested if you don't know if you carry it, what to do if you do. Hopefully I will also dispel your worries, because this is a very manageable issue with straigh orward preven on steps you can take. What is MTHFR? The MTHFR gene provides the code for a specific set of instruc ons your body uses to make an enzyme called methylenetetrahydrofolate reductase – yes, a mouthful – so we all call it MTHFR. Wait, what's a gene? And what's an enzyme? Let's review these concepts first. Genes, which are made up of DNA, are the basic units by which heredity happens – that is, the transfer of your gene c blueprint from your parents to you. They are present in all your cells (except your red blood cells), and provide your body with the instruc ons for assembling all of your basic structures via protein forma on. The Human Genome Project es mates that we humans have somewhere between 20,000 and 25,000 genes, each of which is made up from a few to thousands of sequences of the gene c building blocks called nucleo des. Each of us is gi ed with two copies of every gene, one copy of each inherited from each of your biological parents. These pairs are called alleles, and we all have basically the same number of genes, coding for the same proteins, with varia ons in some genes that give us our unique height, eye color, and other "traits." We also have basically the same genes that program our biological func ons, but even there, we can have varia ons. The most obvious differences occur when there are serious gene c varia ons that can occur by accident or damage in the reproduc ve process and lead to birth defects or diseases. We also can have less serious varia ons in the sequences of our genes, whereby one of the smallest par cles that make up our DNA, the nucleo des, gets dropped or swapped one for another, in one of the alleles. These changes are called SNPs, short for single nucleo de polymorphisms. However, unlike gene c defects that lead to diseases, the SNPs associated with the MTHFR gene don't automa cally cause disease or medical problems- they are changes that are modifiable with lifestyle and nutri onal approaches that I'll share with you in this ar cle so you can prevent problems. Enzymes are substances that "catalyze" reac ons – which means they cause a chemical reac on to happen, for What the Bleep is it? MTHFR:

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