Tay Sachs Disease

By: Alex Mancino

Background info on Tay

Sachs
Causes intense mental
and physical deterioration
at a young age
Currently there is no cure
Mutations in the HEXA
gene cause Tay-Sachs

Genetic Information
Autosomal recessive genetic disorder
It is caused by a genetic defect in a
single gene with one defective copy
of that gene inherited from each
parent
Mutation is on 15th chromosome

Mutation on 15th
chromosome

When each parent has the

gene
50% chance that their child will be a
carrier, but not have the disease
25% chance that their child will not
be a carrier and not have the disease
25% chance that their child will have
the disease

What actually happens?

Harmful quantities of a fatty
substance called ganglioside GM2
build up in tissues and nerve cells in
the brain
Insufficient activity of an enzyme
called beta-hexosaminidase A that
catalyzes the biodegradation of the
gangliosides

Affected Body Parts

Red spot behind eye, forms
Blindness follows

Hearing loss
Complete loss of physical movement
Seizures

Diagnosis
Complete physical evaluation
A detailed history of symptoms and family
hereditary disorders
Eye examination
Looking for red spot on eye

Blood test
A blood test can measure hexosaminidase A
(hex A) activity
Parents can get blood tests to see if they carry
the Tay Sachs gene

Prognosis
Youre screwed
Death usually occurs by the time the
child is 5 years old
In cases where kids get Tay Sachs
later on in childhood (rare) they
usually die once the reach their teen
years

History of Disease
Named after Warren Tay and Bernard
Sachs
Warren Tay
First described red spot on retina in 1881

Bernard Sachs
Did further research and described the
changes in cells during Tay Sachs
also noted an increased prevalence of Tay
Sachs disease in the eastern and central
European Jewish population

Bibliography
http://nervous-system.emedtv.com/tay-sachs-disea
se/history-of-tay-sachsdisease.html
http://www.ninds.nih.gov/disorders/taysachs/
taysachs.htm
http://ghr.nlm.nih.gov/condition/tay-sachs-disease
http://kidshealth.org/parent/medical/genetic/
tay_sachs.htm