When I say the word “genetics”, what comes to mind?
You may already be familiar with the word “gene” or maybe “DNA” but what do these terms mean? Understanding these words may be more important than you might think.
So, let us break it down.
A question for you
What did you inherit from your parents?
Some would say that you inherited the shape of your nose, hair colour, or eye colour.
Source: Alexas_Fotos via Pixabay
It’s common to hear “she has her father’s nose” or “you have your mother’s blue eyes”.
For me, I get comments on my bright blue eyes. My response is usually ‘thank you! It runs in the family.
This is true. Some traits, such as the blue eye colour, can be passed down through families.
But how does this happen?
Well, the instructions for our body to function and develop are found in a biological instruction manual called DNA. It’s often presented as a twisted string shape like the image below.
DNA is simply 4 letters representing chemical compounds – i.e. A T G C which when placed in specific sequences create the instructions for our body to function.
We normally receive half of our DNA from our biological mother and half from our biological father. However, everyone has a slightly different sequence of letters, and that’s why we are all different.
Genetics is the study of our genes, which are made up of segments of DNA.
Genes code for proteins that are essential to keep our cells and body functioning normally.
Proteins made by our body have many important roles. For example, they can directly impact traits such as eye colour or skin pigment.
Look at the example below to see how a gene can be linked to a physical trait. In this case, the flower colour gene is linked with the purple colour of a flower.
Source: Khan Academy, "Overview of Gene Expression" in "Intro to gene expression (central dogma)"
So, when someone refers to your ‘genetics’ – they are talking about the genes you have. Specifically, what is the variation of a gene you carry?
There are many variations of the same gene. These different variations are referred to as alleles (pronounced “ell-eels”). Everyone has two alleles. One allele you inherit from your biological mother, and one from your father. Sometimes can also be born with a new variation of a gene that is not in your family.
Most variations of genes result in normal protein function, but a small change can lead to changed protein function.
When protein function is affected, it can cause inherited conditions such as NP-C.
To be affected by NP-C, both alleles need to have a changed protein function.
If only one allele has changed function, but there is still a copy with normal protein function then the person is referred to as a carrier of NP-C.
Bringing it together
Whether it’s blue eyes or an inability to process cholesterol in your cells, genes play a big role in who we are and how we function.
If you are interested to know more, stay tuned for future posts on this topic. In the meantime, Melbourne Genomics and Australian Genomics both have some great resources and information.
Stay supportive and supported,
Ellie
P.S. Don't forget to read my first post to see who I am and why I started NP-C Corner.