 |
Genes & Disease
How do mutations cause disease?
A healthy body depends on the interaction between thousands of proteins, acting together in the correct amounts and in the correct places. Proteins are what perform all of the body's essential functions - fighting infections, growth and repair, detoxifying toxins, metabolising food and much more. Mutations in our genes can result in the production of a completely malformed protein that is unable to carry out its functional role or they may change the amount of a protein being produced.
The outcome of a particular mutation depends both on how it alters a proteins function and also on how vital that protein is to our survival. Failure to produce proteins in the correct amounts or at all can disrupt essential metabolic, regulatory or signalling pathways resulting in the development of disease.
|
|