I’ve always had an interest in genetic disorders or diseases. Genetics are complex and very detailed, it takes a lot to make chromosomes and genes. So, that leaves plenty of room for something to go wrong, right? There are many different diseases and they all have different causes. Cystic fibrosis, sickle cell anemia, Tay-Sachs disease are all caused by some sort of protein mutation.
Cystic fibrosis is hereditary disease that causes the body to produce mucus that is thicker and stickier than usual. Both parents must carry the gene for their child to have it. This is caused by a defect in a protein that controls flow of water and salt outside of the organs and cells.This protein is called the Cystic fibrosis transmembrane conductance regulator. The balance of salt is disrupted causing too little salt and water.
Above is a link to an article where you can read more about this disease if you are curious!
This is a picture of what the protein looks like.
Image from Wikimedia Commons
Sickle Cell Anemia
Sickle cell anemia is blood disease that affects red blood cells. Typically, red blood cells are a round shape, but patients with Sickle cell anemia have a crescent moon shape. This is due to a defect of the hemoglobin. Hemoglobin is a protein responsible for carrying oxygen from the lungs to the rest of the body. The beta globin gene is that part of the hemoglobin that becomes mutated. Both parents must carry the gene for someone to have it.
The link above has more information on the diseases and a Diagram of what the cells look like.
Tay-Sachs disease is a rare hereditary disease caused by lack of an enzyme that helps break down fatty substances. The substance is called gangliosides and when it’s not broken down it cause toxic build up the brain, which then impairs function of the nerve cells.
Misfolded proteins can happen spontaneously, it occurs when a protein follows the wrong pathway. The misfolding can cause a protein to turn toxic. This type of change often occurs in proteins that have repetitive amino acids.The new protein will repeat itself and continue to make bad proteins.