08/24/2026
Genotype refers to a person’s unique set of genes that make up the blueprint of their DNA. Your genes make the proteins and factors you need to stay healthy and make your body work properly. 🧬
When there’s a change (also known as a variant) in a gene, it’s like a typo in the DNA. Some typos don’t change anything, while others can affect how the gene works – sometimes causing disease. Changes in the SLC13A5 gene alter how the citrate transporter protein works. This protein is necessary for moving citrate into cells. Citrate is important for making energy. When there is not enough citrate brought into cells in the brain, energy levels become depleted, and seizures and neurological disorders arise. 🧠
In our last TESS Terminology post we broke down the term phenotype. To easily understand the terms genotype and phenotype, think of baking cookies. Genotype is the recipe for the cookies, with steps and measurements that need to be followed precisely. Phenotype describes the end product: a fully baked cookie. 🍪
When the recipe has an error, like a missing or wrong instruction, which tells the body to use the wrong ingredient, this changes the end product. These errors can lead to issues in how the body works, similar to replacing salt for sugar when making a batch of cookies. The end result may look like a cookie, but it doesn’t taste like it’s supposed to. These changes in the recipe, or genetic variants, occur frequently in rare diseases like SLC13A5 Epilepsy. 🧂
To understand more about SLC13A5 Epilepsy, head to our website: https://bit.ly/3AgVDeI 💜
