Genes are Instruction Books
Our bodies are made of trillions of tiny cells. Inside each cell is a set of instruction books called genes. These genes contain all the information that tells our bodies how to grow, develop, and work properly.
The SARS1 Gene's Job
The SARS1 gene is one specific instruction book in this library. Its job is to give the instructions for building a special worker called an "enzyme." This enzyme has a very important task: it grabs a tiny building block called L-serine and attaches it to a special delivery truck (this truck is called a tRNA). This is one of the very first and most important steps in making proteins, which our bodies need for everything.
What is a Mutation?
A mutation is like a spelling mistake or a damaged page in the SARS1 instruction book. Because of this mistake, the enzyme worker isn't built correctly, so it can't do its job of attaching L-serine to the delivery truck properly.
Why Does This Cause Health Problems?
When the SARS1 enzyme doesn't work well, the whole assembly line for building proteins slows down. Our brain is the most energy-hungry organ in our body and needs to build proteins constantly to grow, make connections, and function. When this fundamental protein-building process is disrupted, the brain is the most affected. This is why the condition causes the developmental and neurological challenges that children with SARS1-related disorders experience.
SARS1