Rare Genetic Chromosomal Disorder
Back to Basics: Genetics 101
It’s been a long time since that high school Science class. Here’s a quick refresher!
Our bodies are made up of cells. Within each cell is a nucleus. Within each nucleus there are 23 pairs of chromosomes (you get one from mom and one from dad!). Each chromosome contains anywhere from hundreds to thousands of genes and these genes contain instructions for making proteins. The directions for making these proteins are spelled out by a sequence of 4 bases which are represented by the letters A,T,G,C. A’s pair with T’s and G’s pair with C’s. The entire Human Genome contains about 3 Billion of these base pairs. We all have multiple spelling errors on our genome and most of the time these errors are inconsequential but if the error occurs on a vital gene in a crucial spot the instructions to make proteins are messed up with devastating consequences
What does the NAA10 gene do?
NAA10 is a protein coding gene essential for normal cell function. NAA10 encodes the enzyme known as N-Terminal- Acetyltransferase 10 which along with NAA15 makes up the NatA complex. The NatA complex catalyzes a very crucial process known as Acetylation within our cells. Acetylation is a chemical event that involves the attachment of an acetyl-CoA group to a protein. It is through this attachment mechanism
that the cell regulates protein stability, activity and localization.
Mutations to the NAA10 gene changes the structure of the protein which makes it less effective at N-Terminal acetylation than a non-mutated protein. This reduced activity that sometimes effects NAA10 stability is what causes the symptoms of Ogden Syndrome to manifest.