Mutation Story – Tay-Sachs

I am Tay-Sachs disease. I am very rare, but am most commonly found in Ashkenazi Jews, and very rarely in French Canadians and certain Cajuns in Louisiana.

I have just been born into my host, a new born baby. Her parents both had one defective HEXA gene. My home for the next three and a half years will be inside the HEXA GENE of my host, specifically in beta-hexosaminidase A, found in lysosomes specifically found in brain cells. I will grow and spread as I develop very quickly and with dramatic impacts.

My host is now almost four months old, and my work is about to start.  When my host was born, she had both defected HEXA genes from her parents, resulting in me being created. The HEXA gene is what gives the instructions tay-sachs-lysosometo create beta-hexosaminidase A. Beta-hexosaminidase is found inside of lysosomes; the part in cells that break down toxic substances, and recycles other materials within the cell. The beta-hexosaminidase A breaks down a fatty substance called GM2 ganglioside. I am a default in the HEXA gene. Because my host’s parents were carriers they passed me down to their child. Because I have stopped the gene from functioning, the beta-hexosaminidase A can not be created. This is what I have been up to for the past four months. I’m slowly starting to affect her brain and spinal cells. She has started to show signs of deafness and her growth progress is slowing down.

Cherry Red dot in Eye
Cherry Red dot in Eye

Throughout the next couple of months as my host reaches 6 months of age, she starts to have occasional seizures. She develops the cherry red spot in her eye, the most common sign that I give off. The parents are starting to visit doctor’s more often, and my now 7 month old host
has been diagnosed with Tay-Sachs. Now,because the beta-hexosaminidase A can not be created, it can not get rid of and clear the cell of GM2 gangliosides. This is causing the toxic and fatty substance to build up in her cells, causing her brain to malfunction. When GM2 ganglioside builds up, it stops certain parts of the brain from working, causing my hosts body to develop very slowly, if at all. Many of my hosts (being an infant) important skills that are needed when developing are lost of affected. Her parents have noticed how their child and my host has lost her motor skills, meaning she can’t crawl, and struggles to even sit without any help. tay-sachs-disease-how-it-is-passed-onShe has also shown signs of losing any sight and hearing she had. The ongoing accumulation which is called substrate is causing a lot of damage within her cells. These symptoms continue to get worse throughout the next couple months, as more and more of her brain cells  are filling up more and more with GM2 ganglioside.  My host is now almost two and a half years old, and is deaf and blind. She cannot walk or talk, and continues to have seizures quite often. The one consistent thing is that she has the red cherry dot in her eye. There is no cure to Tay-Sachs disease, and so the parents and doctor’s just have to sit and wait until I take my hosts life. All my hosts symptoms progress and become worse as she ages, and they know that she will pass on soon. It has been four years since I have infiltrated my hosts brain cells, and today she has passed on. Her brain stopped functioning due to the  GM2 ganglisoside build up in her brain cells.


For the research of this project, I went onto many different informative websites to help me find the information I needed. At the bottom of this post are all my cited sources. I used many websites, and searched to find helpful pictures to show what happens in this process and disease. To start off, I gathered any information I already  knew about it, which was very little. I then searched up specific questions on what type of information I would like to know. I then found some general sights on Tay-Sachs to see if I missed any information. For this project I could have been more organized with my notes, as they were not in a logic order if anyone else were to read them. Lastly, I feel like I completed my story very well while showing all the steps of Tay-Sachs disease.

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