Tay-Sachs Disease

Tay-Sachs disease is an inherited metabolic disorder in which certain lipids accumulate in the brain, causing spasticity and death in childhood.

Symptoms

Common symptoms appear in infancy
- Infants with this disorder begin showing signs at the age of 3 to 6 months
- Development slows and muscles used for movement weaken
- Lose motor skills such as turning over, sitting, and crawling
- Exaggerated startle reaction to loud noises
- Experience seizures
- Vision and hearing lose
- Intellectual disability
- Paralysis
- Eye abnormality called Cherry-Red Spot
- Usually live only into early childhood
Symptoms of Tay-Sachs disease are milder in adulthood than those seen in infants
- Muscle waekness
- Loss of muscle coordination
- Speech problems
- Mentail illness
Overtime, children with Tay-Sachs disease becomes blind, deaf, mentally retarded, paralyzed, and non responsive to the environment
Tay-Sachs children usually die by age five

How do you get Tay-Sachs Disease?

Tay-Sachs progressively destroys nerve cells (neurons) in the brain and spinal cord
Tay-Sachs is an inherited disease that only occurs when both parents carry the Tay-Sachs gene and each parent transmits the defective gene to their child
People with Tay-Sachs disease lack a vital enzyme called hexosmindiase A (Hex-A)
- Hex-A is needed for the body to break down fatty waste substances found in brain cells
- Without Hex-A, this substance accumulates abnormally and causes progressive damage until the nervous system can no longer sustain life
- Chemicals called gangliosides build up nerve cells in the brain, destroying brain cells

How can a cell fight this disease?

Since Tay-Sachs disease is caused by the abnormal accumulation of GM2 ganglioside lipid by the absence of an important enzyme, hexosaminidase-A, my perfect cell would create multiple hexosaminidase-A. The name of this enzyme is "Twin Hex-A". In case of one of these enzymes is missing, there would be extra so that the cell would not acquire this disease. This enzyme will be experimented on and created in a lab and will be inserted into the cell by splicing into embryonic stem cells.

Reference Page

Tay-Sachs disease - Genetics Home Reference. (2017, June 13). Retrieved June 16, 2017, from https://ghr.nlm.nih.gov/condition/tay-sachs-disease

Tay-sachs Disease. (n.d.). Retrieved June 16, 2017, from http://www.tay-sachs.org/taysachs_disease.php

Image Reference Page

Photos 1, 3, and 4 - Free from WIX
Photo 2 - From Flickr