Behind Tay Sachs Disease
By: Chloe Mosler
About Tay Sachs Disease.
What is Tay Sachs Disease?
Tay Sachs disease is a single gene mutation, that's a deadly, fatal genetic lipid storage disorder. In which hazardous amounts of ganglisode (A type of fatty substance), builds up in tissues and nerve cells in the brain.
Heredity of Tay Sachs Disease.
Tay Sachs Disease is a very rare disorder. For a child to inherit Tay Sachs Disease the parents of the offspring must be both carriers of the disease. The child will then have a 25% chance of containing Tay Sachs.
The picture below demonstrates how Tay Sachs is inherited. http://cs.mcgill.ca/~rwest/wikispeedia/wpcd/images/117/11723.png.htm
Is Tay Sachs Disease a common disorder?
Tay Sachs is in fact a very rare disorder. the carrier rate for the population is 1/250 people who will contain Tay Sachs.
Where is Tay Sachs located in the body?
Tay Sachs Disease is located on chromosome 15 in your body.
What Population does Tay Sachs Mostly effect?
Tay Sachs mostly effects the European- Jew population.
How is Tay Sachs caused?
Tay Sachs is caused when chromosome 15 is developed with a defective gene. This causes the chromosome not develop or produce the protein hexosaminidase A. Without the protein produced, dangerous chemicals called gangliosides, build up within the brains nerve cells. This damages and destroys the nerve cells.
The picture below shows Chromosome 15 and where the defective gene is located that causes Tay Sachs. https://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease#/media/File:Hexachr15.jpg
Is Tay Sachs a dominant, recessive, or sex-linked trait?
Tay Sach is nor dominant or a sex-linked trait. It is indeed a recessive trait.
Can Tay Sachs be caused by any environmental factors?
Environmental factors can not influence Tay Sachs within the host.
Effects of Tay Sachs Disease
Life Expectancy
Children born with Tay Sachs usually live up to 4 years old. (Longest living child with Tay Sachs Disease was 8 years old)
Symptoms
With Tay Sachs Disease children become deaf, blind, and cant swallow. Other symptoms can possibly include seizures, dementia, also a startled reflex to sound. In a much more serious case, patients of the ages 20-30 can be prone to neurological deterioration (disorder of the nervous system). People with Tay Sachs disease also have been noticed to contain "cherry red" spots inside their eyes
Eyes of Tay Sachs
in this photo, it shows the "cherry red" spots that patients contain from Tay Sachs. http://peir.path.uab.edu/library/picture.php?/28358
Child with Tay Sachs
this photo shows a child with Tay Sachs disease.
http://www.palmbeachpost.com/news/lifestyles/real-life-lessons-treating-terminal-kids/nfnYR/
Difference of Cells
On top shows a normal cell. On the bottom it shows what happens to it when affected with Tay Sachs. It shows buldging lysosomes and an affected neuron. https://prezi.com/sjs60tlq0snr/tay-sachs-disease/
THe History Behind Tay Sachs Disease
Who Founded Tay Sachs
Tay Sachs was founded by Warren Tay, a British ophinalimologists
When was Tays Sachs Founded
Tays Sachs was founded in 1881.
The picture below shows Warren Tay himslef. https://en.m.wikipedia.org/wiki/File:Warentay.JPG
Help?
What diagostic tests have been preformed to determine Tay Sachs?
Tay Sachs can be determined before birth. Parents looking forward to have a child must take a Tay Sachs blood test to determine if their child will inherit the disease. Children who are already born are also suggested to take a blood test, to determine if they indeed of had inherited Tay Sachs Disease.
Is there anyway to prevent Tay Sachs Disease?
The only way to prevent Tay Sachs disease is through a certain mate selection. Many research has been conducted on how to cure Tay Sachs, but non have succeeded. There is no cure yet for Tay Sachs.
What organizations are there to help families with this particular disorder?
Organizations looking to help people with Tay Sachs disease are "The March of The Dimes" and "Allied disease Association". These grouos help fund families with children you have inherited Tay Sachs Disease.