Episode 89 – Single Nucleotide Polymorphisms (SNPs)

Dr Chad: 00:00 This is Dr Chad Edwards and you’re listening to podcast number 89 of against the grain. Welcome back to the against the grain podcast. This is Dr Chad Edwards and I am here with the lovely Diana. Good to be here and we are finally back recording. We’re podcasting. We’ve got some ambitions to get some more information out there and to do more of these podcasts. We’ve had a lot of requests for these. So here we are. Diana, what are we talking about today?

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Diana: 00:24 We’re talking about snips (SNPs),

Dr Chad: 00:26 snips, like the sec dummies, not today. Okay. So tell the listeners what are snips (SNPs),

Speaker 2: 00:35 snips. We’re going to be talking about specific sections of DNA

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Speaker 1: 00:40 that sounds gripping. Well, I hope so. Okay. So snips, this is, you know, if you go back for our listeners, if you go back to podcast number 41, we talk about the MTHFR gene and we’re talking about methylation and how that process is involved in a lot of things that the human body and why it’s beneficial and helpful and all those kinds of things and how this can affect your overall health. So this, and we talked quite a bit about that before, we’re going to talk a little bit more generally about some of these snips and what they are and one of the reasons that we’re doing this is because in the clinic we have started doing more testing with some of these genetics things and I think that most physicians out there, this is my opinion that do some of this testing or patients that will get some of these tests like the 23 and me, they are testing your genetics and they’re looking for your snips, how you vary from one individual to the next.

Speaker 1: 01:41 And so we want to talk a little bit about what that means on this episode of the podcast. And in the future we’re going to dive deeper into what some of the other implications are for each of these genes and what some of our cardiovascular testing and with some other things. So I wanted to give a foundation for a, for what these things are. So uh, we’ll, we’ll do MTHFR but let, let’s start with the foundation of you have this gene, that or DNA segment. You’ve got a chromosome that you get one from mom, one from dad, and then you have these, uh, these individual genes which, you know, today, you know, today’s Easter as we’re recording this, it’s Easter. And so my father in law asked now what is a gene? And like, he, he caught me and I was like, wait, how do I put this into words where he can understand, but you did a great job. So give us your answer.

Speaker 2: 02:41 I’m bringing my classroom experience here. Um, basically when we talk about DNA, you have a ladder, so if you can just imagine a ladder and then as you have each step or each rung of these ladders, we can identify those as being a snipped. So when we look at a segment of ladder, we have these snips and each one of those sections are responsible for doing a different thing so they can be responsible for your eye color. They can be responsible for whether or not you have a widow’s peak and your hairline. Every one of them are going to do something different and some will be turned on and some will be turned off. And then during processes in our life and things that we come in contact with and decisions and choices we make, we can actually change what’s turned on, what’s turned off. And I’m sure we’ll get there later too.

Speaker 1: 03:31 Yeah, you’re kind of jumping the gun there. Sorry, I get really excited. It’s a good teaser. We will be talking about a genetic expression and what, what turns things on with our epigenetics. No, that’s within one of the next few podcasts that we’re going to be doing. So in these, in these snips, you got this gene that Diana so eloquently described and within that gene there’s, there’s some terminology that we should probably hash out. And one part of that is we’re going to talk about the wild type. So wild type. Wow, right? It’s getting wild here. So the wild type is what is kind of average that’s the most common, a variant of the gene. Uh, so for example, with the MTHFR, there’s, there’s a couple of different snips that we’ll look at and we’ll look at the 677 portion and we’ll look at the 1298.

Speaker 1: 04:24 Just using those as examples. We’ll start with the 677 and with that gene it can either be expressed as a c or as a t and basically each one of those will encode for a different amino acid and with that different amino acid you, because the DNA during transcription makes RNA and the RNA will eventually make a protein and the composition of the DNA through get three base pairs makes it code on the code on expresses a specific amino acid and when you have a variation in that genetic segment or a snip single nucleotide polymorphism is what the SNP, what that stands for. And so when you have a difference with 677 on the MTHFR, you have this, it could either express as a T or a C and then of course you get one from mom, one from dad, and so the, the wild type is I believe at cc on the 677 part. If I’m, if I’m saying that wrong, I’m going to pull it up here in just a second. In fact, Diana, can you just,

Speaker 2: 05:33 while you’re pulling that up, um, just to make sure everyone’s clear when you’re saying 677 and then that other number, the number identifies the gene,

Speaker 1: 05:43 the, the number identifies the spot on the gene. Got It. Thank you. Yeah, go ahead.

Speaker 2: 05:49 And then whenever you’re talking about you, you mentioned DNA, RNA and then back to DNA. Basically every time your cell multiplies because we have to keep reproducing them so that we can repair and fix things. And, and you know, constantly being under maintenance we ourselves have to divide and when they do that they have to have the instruction manual in order to maintain the job they’re supposed to perform. That’s where your DNA comes in. So in order for that cell to reproduce, you have to copy the DNA so the new cell knows what to do in that process. I mean just imagine putting on, on a copy machine and you’re able to do that. But every once in a while, if you put it on the copy machine and you don’t clean the screen off and you get, you know, an extra little shadow on that copy machine and then they copied it comes out, it’s not clean, it’s got a difference to it. And that’s where we can get into some of these mutations, am I right?

Speaker 1: 06:46 So those variations can come about from any number of reasons and I don’t know that we have a good grasp on where they come from, uh, but regardless, they do happen and it’s one of the things that gives us biochemical individuality. And when it comes specifically to the MTHFR and the 677 a mutation, the wild type, which means the most commonly expressed, are the most common version of that gene, uh, in, in the MTHFR gene is the. See. See, that’s homozygous normal. Homozygous means that both of them, the one that you get from mom, and the one that you get from dad are both, uh, the average version. That’s the most common one. The real allele, I think, uh, the allele form or the allele itself is TT, so you can be homozygous normal, which is CC, you can be homozygous abnormal, which is TT or I don’t want to say abnormal because that thing, that’s one of the issues that we run into with some of these things.

Speaker 1: 07:51 It’s not normal and abnormal. It’s, I’m not wild it exactly, uh, the, the most common or less common. And so on the wheel, the, uh, the TT is the less common form and that results in the enzyme, the MTHFR. So the methylene tetrahydrofolate reductase enzyme is less efficient than the wild type version. And what does that do? And so those individuals, if you’re heterozygous abnormal heterozygous, meaning you have one C and one T, they, their enzyme is not as efficient or if you’re homozygous abnormal meaning tee tee. And so that means that you cannot perform this methylation cycle which go back and listen to podcast number 41 and talk a little bit more detail about that. So, um, you cannot perform that as well. That enzyme is not as efficient in transferring that methyl group throughout that cycle or at least at that and where that enzyme kicks in.

Speaker 1: 08:54 And so you can have some difficulty with that. Each genetic SNP you have a wild type and an allele and sometimes there’s multiple different deals where you have multiple different variations and it results in a number of different potential outcomes. So just, just important, I think to understand that we are all individual, we are all very unique and when we produce offspring, they have a different gene, genotype or gene than we have and you know, so we’re producing new things and, you know, going. Let me go back one more, one more step just to that, uh, to talk a little bit more about the biochemistry because I think it’s important some of you guys made like, start rolling your eyes and nodding off at me, but for those of you that want more information on the, uh, on the MTHFR, it’s called a C and a T because that’s the amino acid that’s encoded.

Speaker 1: 09:53 So remember I told you, uh, we talked about the code on which of those three DNA base pairs that will encode for an amino acid, the wild type, the type C that encodes for a site azine amino acid to be at that space. The wild type is a thymidine, so the DNA is a little bit different. So instead of producing aside cytosine, it produces a thymidine and because it’s got an, a different amino acid, that enzyme that it makes has a different conformational shape and results in a different efficiency with that enzyme. And uh, so, you know, the 23 & Me, they test, I don’t know how many of those things, uh, that they, that they check how many different snips that they check on our CardiaX, which will be the specific topic of multiple podcasts. And then in the near future in codes for checks, 21 different genetic snips.

Speaker 1: 10:49 Each of those have a different meaning and a different risk associated with it. So very cool testing. But I think we’re so often we go awry in checking these tests is knowing how does, what difference can we make? It’s one thing to get the test and see, oh, I have green eyes instead of blue, you know, from a genetic perspective. So, what does that mean? And not only what does it mean, but what can I do about it? And that is where the, I believe much of the future of medicine, lies. The problem is, is that some of this stuff is so complicated and so multifactorial that we have to have stuff laid out really well and that’s one of the things that we’re trying to do at Revolution Health. And certainly we do our baseline things like bioidentical hormone replacement therapy.

Speaker 1: 11:37 We manage thyroid and prolotherapy and all of those kinds of things. But we are looking at, uh, the, the future of medicine and trying to customize our therapy for individual genetics at least in some cases. I don’t think everyone needs all of this, but I think there’s some really interesting things out there that I think is worth testing in the cardiac is definitely one that I would check. So on some of these, these genetic markers, again, I think it’s important to check some of these. You are welcome to come to the clinic and we can test this. If you don’t have access to our clinic and need our help, you can shoot us a message through the website, will do, we can help you out. But I thought it was important to understand a little bit about what these SNPs mean. It doesn’t mean you’re abnormal, it doesn’t mean you’re messed up, it just means that things are a little bit different and when things are different, what risk or benefit is conferred to you? And that’s where this genetic testing can come. So Diana, anything else you wanted to add? No, just make sure that you stay tuned in so that whenever we do get to talk about the CardiaX in detail, you won’t miss that information. Awesome. Thank you guys so much for listening and let us know if you have any tips, be sure to go to iTunes, leave us a some feedback, give us a good review and let us know what you think. You guys have a great day.

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