Over 100 years ago a Dr Gilbert saw the effects of this syndrome that now has his name. It wasn’t until decades later that we named the gene involved.
Our genes were only fully mapped as recently as 2003. New discoveries are being made all the time about how our genes interact with each other. We now know that we’re all very different in the responses our bodies have to our environment. Part of this is to do with our genes – but there are many other factors within our control.
This picture shows what a gene is. We’re all made up of cells, inside which are chromosones, which are made up of DNA. Genes make up our DNA.
This video gives a quick and simple explanation of what genes are:
Our special gene is UGT1A1
The gene responsible for Gilbert’s Syndrome is one example of a gene that shapes how our bodies work. You may have other genes that mean your body works in a particular way, alongside Gilbert’s Syndrome. This, along with how and where you live, makes your body and health unique to you.
One day it’s hoped we can have health management responses which are tailored to everyone’s unique genetics and environment. Until then, it’s really important that you are your own expert. By learning and acting on what you know you can make sure you are healthier and happier.
What does UGT1A1 do?
- It produces an ‘enzyme’ – this is a chemical that helps your body process other substances in your bloodstream that pass through your liver
- This enzyme processes substances like ‘bilirubin’, and other toxins in your blood. This means your body can safely get rid of them.
- When there’s not enough to process these toxins, they build up in your body and you can turn yellow, feel ill or get itchy skin.
You can find out more about UGT1A1 (https://medlineplus.gov/genetics/gene/ugt1a1/#resources) HERE
People with Gilbert syndrome have approximately 30 percent of normal bilirubin-UGT enzyme function. Medline Plus
How an enzyme works:
- A substance moves towards the site of an enzyme
- a chemical reaction is triggered by the enzyme,
- and the enzyme then changes the original chemical into something else.
For example, a common problem for many people is when the enzyme ‘lactase’ doesn’t breakdown the lactose in milk into glucose and galactose. Lactose intolerant people react with nausea, stomach aches and other digestion problems when they consume dairy products. A similar thing happens to people with Gilbert’s Syndrome with bilirubin. The process is called glucuronidation. For a technical description of the process you can find out more in this pdf. Glucuronidation process
You can find out more about Gilbert’s Syndrome and your genes here: https://gilbertssyndrome.org.uk/genes-gilberts-syndrome/
Find out more about bilirubin processing in the next lesson.