Genetics

101ANGELA HEAP

http://www.hartnell.edu/tutorials/biology/dnareplication.html

DNA is Organized Into Chromosomes

The long molecules of DNA in your cells are organized into bits called chromosomes. Humans have 23 pairs of chromosomes. Other organisms have different numbers of pairs and just because you have more chromosomes doesn’t mean you are a super being! - for example, chimpanzees have 24 pairs. Bananas have 11 pairs of chromosomes, while fruit flies have only 4.

Chromosomes are Organized Into Genes

Chromosomes are further organized into short segments of DNA called genes. If you imagine the

chromosome as the bookshelf then your DNA as a cookbook in a shelf, and your genes are the recipes.

Written in the DNA alphabet - A, T, C, and G - the recipes tell your cells how to function and what traits

to express. For example, if you have curly hair, it is because the genes you inherited from your parents

are instructing your hair follicle cells to make curly strands.

Genes Make Proteins

Cells use the recipes written by your genes to make proteins - just like you use recipes from a cookbook

to make a meal. Proteins are the worker bees of your cells and do a lot of the work in your cells and

your body. Some proteins give cells their shape and structure. Others help cells carry out biological

processes like digesting food or carrying oxygen in the blood. Using different combinations of the As,

Cs, Ts and Gs, DNA creates the different proteins - just as you use different combinations of the same

ingredients to make different meals.

http://futurehumanevolution.com/what-is-genetic-engineering

Genetic Switches Control the Traits Cells Express

Cells come in a massive array of types; such as brain cells and blood cells, skin cells uterine cells

intestinal cells and liver cells and bone cells. But every cell contains the same instructions in the

form of DNA. So how do cells know whether to make an ovary or a fallopian tube? The answer lies

in complex systems of genetic switches. Master genes turn other genes on and off, making sure

that the right proteins are made at the right time in the right cells. Imagine a massive operating

system of connecting telephone calls, with an operator at the helm!

SNPs are Copying Errors

To make new cells, an existing cell needs to divide into cells two. But first it copies its DNA so the

new cells will each have a complete set of genetic instructions. Cells sometimes make mistakes

during the copying process – like typos. These typos can cause problems and lead to problems in

the DNA sequence at specific locations, called single nucleotide polymorphisms, or SNPs

(pronounced "snips").

Some of these variations are functional like for eye colour, some have little or no impact and others

can cause devastating health issues and down the line these impacts can lead to fertility problems.

I mentioned already that having a combination of the base pairs A,C, T and G can either make your

comms system in the body an easy transition, or an less than easy system to understand. When

there is a mix of heterozygous or homozygous it can result in some pretty awkward transitions or

worse still when your body tries to methylate, ie breakdown and assimilate it hits a brick wall or a

traffic jam.

I’ve heard allot of practitioners talk about having a homozygous gene as an 8 lane highway with

only a 2 lane filter. Many use the ‘cog system’ of a machine to explain methylation with certain

things needing to work at a certain speed for other cogs to work off this and the cell to function.

When we look under the hood a little at the biochemistry of this, that’s when it can get fascinating.

Having a few of these base pairs that give you either Heterozygous or Homozygous can really

affect your fertility.

Out of the huge array of SNPs we are faced with there are about 30 or so that have a major influence

on chronic health issues and around 15 of those will indirectly effect fertility. However please don’t get

bogged down in ‘genetic mutations’ here. Remember we are complex interrelated beings and not a

combination of genes! If you remember this when you disappear down the genetic rabbit hole, it will

help you keep one foot planted firmly on the ground!

SNPs are mostly related to methylation which is a fundamental pathway in the body involved in gene

expression, detoxification, RNA regulation, protein function and many other biochemical processes. In

this way methylation underlies aging, digestion, inflammation, energy production, immunity and more.

As reproduction is a key to all of these functions it is important to get these right or we won’t be able to

reproduce or carry babies to term.

Below are some examples of conditions that have arisen, due to having either Heterozygous

Homozygous Risk Alleles expressing in your body

SNP What does this effect fertility?

CYPA1 Oestrogen Metabolising issues

CYDA2 PMS, PMDD, Infertility, hormonal imbalances, low

testosterone

SOD2 Miscarriage

AGT Preeclampsia

IRF6 Tongue Tie in new borns and cleft palate

CETP Heart Attacks, Miscarriage, Strokes. Clotting factors if heavy

periods during menstruation and if pass lots of clots could

have clotting problems.

F2, F3 F5, F7, F9, F10,

F11, F12

All clotting issues. If coupled with MTHFR and MTRR can

be really tricky also

ACE Del16 Hypertension related issue from preeclampsia to oedema

CBS Folate issues, NTD, Cleft Palate, Vitamin A absorption,

Oxidative stress, B2, B6, B12 and folate uptake and

breakdown issues

COMT PCOS, Depression, Preeclampsia, Oestrogen Metabolism,

endometriosis, Miscarriage, neurotransmitter issues which

can lead to pituitary issues FSH/L, Prolactin and cortisol

downgrading/upgrading.

VDR Bsm Vitamin D receptor issues. As Vitamin D is vital hormone for

immunity and fertility can cause issues if this is homozygous

MTHFD1 G1958A Polymorphic variants of folate and choline metabolism genes

and the risk of endometriosis-associated infertility. Association

with oral facial clefts.

MTHFR

677T

1298C

MTHFR – reduced capacity to produce methylfolate. End

consequences may lead to reduced levels of BH4 and SAMe.

Downstream effects from reduced BH4 and SAMe levels are

numerous as MTHFR is the regulator of methylation and

biopterin (neurotransmitter) formation. The variant of MTHFR

doesn’t matter but some variants reduce enzymatic kinetics

more potently than others – such as C677T vs A1298C.

Combinations of MTHFR snps may indicate more restriction in

the pathways. Numerous studies in Pubmed about MTHFR

and Multiple Miscarriage. Folate-related genes and risks of

spina bifida and conotruncal heart defects. NTD, Downs

Syndrome.

MTR Downs and spina bifida and orofacial clefts, particularly in

recent studies from the male side and sperm

MTRR Down syndrome

As I mentioned earlier - Genes are passed on from parents to children. Children receive one gene pair

from each parent. So if I received a C base from my mother and a C base from my father, this gene

would be coded CC. If we look at the HLA-DQA2 gene, one of several genes responsible for gluten

tolerance, we find CC is considered “normal” coding. But as I received an A base from my mother and a

G base from my father then the gene is coded AG, which is considered a heterozygous mutation. This

coding could very well explain why I have gluten intolerance. It is also possible to receive a T base from

both mother and father. This would be considered a stronger – homozygous – mutation and is even

more likely to cause gluten intolerance.

Likewise for another gene that helps to regulate catechol-O-methyltransferase (COMT). COMT

supports the neurotransmitters such as dopamine, adrenaline and Noradrenaline. COMT helps

down, regulate and up-regulate the need for these neurotransmitters and if this is Heterozygous

some of the vital messages for this can get blocked leading to all sorts of issues. I have a T base

from both of my parents and in this instance this means that I have a Homozygous mutations on my

SNP which in essence means I have a major ‘communication’ problem with either bringing on NTs

or down regulating when they aren’t needed! Which also then impacts on my major gland comms

from my pituitary and hence my down regulation of adrenaline and cortisol up/down regulation of

dopamine. When this gene is expressing and variations of different versions of COMT, this can be

linked to issues with oestrogen metabolism and the oestrogen dominance diseases like PCOS and

endometriosis, it has also been linked to preeclampsia and in some cases women carrying this

gene and other genes that compound the problems and can lead to major fertility issues.

Next Steps? If you enjoyed my talk and it’s peaked your interest in this area hooray! – Welcome to the rabbit hole!

What I would suggest next is that you look into getting your genes analysed through

www.23andme.com

From there you will need to download the raw data and to do that I would pick a specialist in Fertility that

can help you to decipher this ( as to be honest in the early days it will all look like binary code to you!)

you will find a list of practitioners that may be local to you here http://www.mthfrsupport.com/practitioner-

2/ Or why not get in touch with me? If not in the UK, I can support you over Skype. The world is a small

place these days - Get in touch!

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