An Easy Scientific Explanation of Friedreich's Ataxia
Hi, my name is Shandra Trantham and I am 20 years old. I’m a student at the University of South Florida studying Cell and Molecular Biology, and I am also living with Friedreich’s Ataxia. I was diagnosed at the age of 12 when I was only in the 7th grade. Back then I knew I liked science, but I never considered it to be a focus of my life. After my diagnosis, my priorities definitely changed. I spent years reading articles and teaching myself everything there is to know about FA and potential future therapies.
From this reading, I learned a lot! DNA contains the instructions for life. Instead of words, these instructions are specific sets of letters (nucleotides). The letters are read in units of 3 and tell the cell what proteins to make.
Normally, there is a section of DNA, called a gene, that makes a protein called Frataxin. This protein allows our bodies to make the energy our cells need to live. In FA, we have a mutation where three of the DNA letters repeat over and over hundreds or even thousands of times. All of these repeating letters get in the way of the correct instructions and make it hard for the cell to make Frataxin protein. It would be like trying to read a recipe that has a bunch of words printed over it. If you really concentrate you could probably read the recipe and make the cookies, but it definitely took you longer and so you couldn’t make as many, right? That’s exactly what our cells are dealing with and because of it, we make much less Frataxin than we need.
Without a decent amount of Frataxin, our cells get stressed and damaged trying to keep up and make the energy. This makes us clumsy and tired all the time! The good thing is that there are many scientists working to stop FA, and every fundraiser held gives the scientists the ability to put all of their focus on finding a cure. Like Kate says, together we can Make it Happen #cureFA!