Part 1-Mutation Story

The Tay-Sachs disease is an autosomal recessive genetic disorder. It can be very deadly. When both parents are carriers, there is a 25% chance of giving birth to a affected child. The child would be given a mutated copy of his or her gene from each parent.

What causes the mutation is a defective gene on chromosome 15 (HEX -A). This defective gene causes the body to not make a protein called hexosaminidase A. the build up of ganglioside in the nerve cells effects many bodily functions such as vision, hearing, speech, movement and mental functions Without this protein, chemicals called gangliosides will build up in nerve cells in the brain. Later destroys the brain and it’s cells.

The symptoms of this disease vary between infant, juvenile and adult. The disease in infants usually develop within 6 months of birth. As neurons become distended with gangliosides a relentless deterioration of mental and physical abilities begin. The affected child may become blind, deaf and unable to swallow. The disease in teens is a rare form. They develop cognitive and moterskill deterioration, dysarthria, dysphagia, ataxia and spasticity. If adults end up getting diagnosed with the Tay-sachs disease it usually hits during the 30’s and 40’s. Usually in adults the disease is not fatal. It’s characterized by unsteadiness of gait and progressive neurological deterioration.

Part 2-Making of the Mutation story

Some questions I researched were almost all the same. What causes the Tay-sachs disease, What are some deadly symptoms, What parts of our body does it effect the most. I used Google to research this disease. I used websites such as Wikipedia, Genome.gov, Kids health and health line. How I started this research was looking up the disease, writing down questions, and searching the internet for as many answers and facts as I could get. How I verified my information was easy. I went on multiple sites asking the same question and getting the same answer. Just to make sure that the information I was getting was correct. The process of completing this project was quite fun to be honest. Knowing that you are getting lots of information on your project means you can get a good mark. And the feeling that you could be getting a good mark is fantastic.