Science Toolkit: What is a mutation?

When researchers talk about BHD mutations they use phrases such as ‘Missense, Deletion and Frameshift’. But what do these words mean, how do mutations occur and what type of BHD mutation do you have? In today’s science toolkit we explore these terms and explain the different types of genetic mutations.

DNA carries all your genetic information, in the form of a code. Imagine a computer code tirelessly running to make sure everything is working smoothly. It is made up of components called nucleotides and it is the order of these nucleotides that determines the bodies programming in other words which proteins are made. Every 3 nucleotides encode for one amino acid, the building blocks of protein, so a change in the nucleotide sequence, can alter the amino acids which ultimately changes the final protein product. This change is called a mutation. Mutations can be caused by the environment or inherited from family members. In BHD, the change in nucleotide sequence and resulting amino acids changes the function of folliculin (FLCN). Several types of FLCN mutations have been identified across the world.

Types of genetic mutation found in BHD

* Splice-site mutation diagram

It can be surprising how one nucleotide change can have the same impact as a large deletion of genetic material, however, going back to our computer analogy it just takes one mistake in the code to stop the programme from working. Therefore, any changes to FLCN which stops it from functioning will result in BHD.

Currently, the management for BHD patients is the same regardless of mutation type but scientists are interested in discovering whether certain mutations are associated with particular BHD characteristics. This could lead to a patient-tailored treatment plan including kidney cancer screening.

In our next Science Toolkit, we will be diving further into specific FLCN mutations and how to understand your sequencing results.

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