We have understood for some time that genes influence our appearance such as your height, your hair colour or your grandma’s nose but as we continue to study human genes we have begun to understand their impact on our health.
When we talk about gene variation there are 2 types, SNP (single nucleotide polymorphism, pronounced snip) or CNV (copy number variation).
This is a single point change involving 1 base pair ie 2 copies of a gene. This accounts for most of your gene variations or mutations. These genes can either be normal, heterozygous or homozygous. Understanding you inherit 2 sets of genes one from your mother and one from your father this is what this means.
Normal is where you have 2 non-mutated genes, so you inherit one from each parent.
Heterozygous is where you have one non-mutated and one mutated, so you inherit one mutated gene from one of your parents.
Homozygous is where you have 2 mutated genes, so both parents passed on the mutated gene.
The effect of a heterozygous or homozygous gene (mutations) depends on what that particular gene does in your body. Often the homozygous gene is more serious because you have both mutations.
There are some mutations which indicate serious health diseases ie cystic fibrosis, haemochromatosis, polycystic kidney disease or mutations which has a more significant impact ie colour blindness.
Whereas there are other genes which are less serious but over time can lead to disease ie diabetes, obesity, high cholesterol, dementia, cancer.
The research is showing for some genes you can have an epigenetic effect so by using your diet, exercise and lifestyle you can switch these genes on and off. Read more below about epigenetics.
These are genes where you can have less copies or more copies so there is not just 2 copies like your SNP genes. The number can vary from 1 to 100 ie you can have between 1 to 20 copies with your AMY 1 gene. This is a new area of discovery and scientist estimate that CNV genes make up about 12% of our genes. What is also interesting is that these CNV genes are different in identical twins so a lot of the research is conducted on identical twins.
Depending on what the gene does the copy number can have different effects. For example the AMY 1 gene is responsible for producing amylase in your saliva and if you have a low copy number you have a low ability to metabolise and tolerate carbohydrates.
CNVs have been associated with many complex diseases ranging from Lupus to Crohn’s and as further research is done we will understand more about how these impact our health.
Again, it is possible to turn up or turn down the activity of your genes, this is referred to as epigenetics.
Epigenetics is the ability to turn our genes on or off, regardless of their mutations, by our environment, diet, the exercise we do and our lifestyle. The effect can start in the earliest stages of embryo development or even before conception to effect the sperm and egg and continues throughout our lifetime.
By understanding the impact these external factors have on our genes we can choose the diet, exercise and lifestyle that will give us the best expression of our genes to enjoy good health.
We provide DNA information and practitioner support based on the latest research to assist you to get the most out of your genes. For more information on our programs please go to DNA based Programs
Key DNA dates:
1954 – discovery of the DNA double helix
1990 – scientists commence the Human Genome Project, it was estimated that humans had 100,000 genes
2000 – first draft of the human genome released
2003 – updated version of the human genome released, part of the discovery was humans have approximately 20,000 genes which is much less than originally expected