How do genes impact health and disease – gene mutations?

Genetic mutations and your body

You will know by now that your family all have similar hair colours and the same colour of eyes; this is what we call hereditary traits. There are a lot of diseases which are also inherited, meaning, that if your relatives suffer from a disease, you are also at risk. This is a result of your genetic information (which is a combination of both your parent’s DNA). That mind, there are other factors which contribute to your risk of diseases such as the environment that you live in and the lifestyle that you live.

Some of the genes that we have are copied from our parent’s DNA, but copies aren’t always perfect. This is known as a mutated gene, and contrary to popular belief, we all have some mutations. There are some gene mutations which result in no health issues, while others can cause health complications; this is what we call a genetic disorder.

Taking things a step further, there are several very rare diseases which are a caused by these gene mutations; this is called a single-gene disorder. However, most diseases are caused by a combination of our chosen lifestyles, the environments which we live in, and our genes.

Hereditary genes

When a gene mutation is given to you from one of your parents, this is what we call an inherited gene, and these mutations can occur at any point during your life. These acquired mutations can be triggered by factors such as UV radiation that is given off by the sun. Over time, your body will continue to develop these mutations which can lead to health problems such as skin cancer developing. Fortunately, these health issues are not passed down to you from your parents (although there is a chance that you will suffer from them in the future).

Mutations, proteins and the environment

Protein helps to maintain the general health of your body and keep everything working as it should. When there is a gene which impacts protein production that doesn’t work as it should, severe health issues could arise.

Furthermore, your genes are a part of each cell that your body creates – keep in mind; you literally have trillions of cells in your body. If there is a mistake in a gene when a cell is created, there may be health issues.

The environment is another very influential factor on your genes. Let’s take the sun as an example. When the sun makes contact with your skin, cells are damaged, and if your body doesn’t repair this damage, the damage will be copied into new cells that are produced.

Cell production

Your body’s system for cell production is excellent for the sole reason that your organism provides an extra layer of protection that prevents those mistakes from duplicating into other cells. While some of your cells will contain incorrectly copied genes, your body will still function as it should (or at the very least, if your body isn’t working correctly you won’t notice it).

It only takes a small number of gene mutations for a genetic disorder to occur. In some cases, your body can repair the mutated gene to prevent the disease from spreading. In other very rare cases, gene mutations can have a positive impact on your health (such as disease resistance).

Other types of gene mutations

So, we already know that there are some genes which can be incorrectly copied into new genes, but this is only one form of a gene mutation – there are several other types too.

Typically, there are two copies of each gene in a single cell (one from each parent) although, in other gene mutations, there are three or even four copies of a gene. It’s also possible for a gene to be missing!

There is a wide range of health problems that are gene-related, and while there are some gene mutations that occur in single genes, the majority of mutations are more complex and tend to spread. Heart-related disease and diabetes are linked with gene mutations as well as your lifestyle and your environment.

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