Anatomy

Anatomy and
and Physiology
Physiology
Project
Project 2.1
2.1
Sarah
Utchel
Sarah Utchel
COMPLETED
6th hour
6th hour

Tay-Sachs Disease
A rare genetic disorder
in humans that causes
progressive neurological deterioration
Occurs as early as 3 to 6 months of age
No known cure or effective treatment

Biochemistry of Tay-Sachs Disease

Genetically inherited autosomal
recessive condition that is caused
by a mutation on chromosome 15
Normally people have the presence
of an enzyme called hexosaminidase A
(HEX A) which is in the brain
HEX A function is to metabolize a fatty substance in
the brain called GN12 ganglioside which is absent in
people with Tay-Sachs

Genetics of Tay-Sachs Disease

Offspring whose parents both carry the affected
allele have a greater chance to inherit the disease
A parent can be a carrier and not
pass on the disease

Inherited through one of the 22

autosomal pairs and only appears
when two copies of the gene(DNA)
are inherited

Sources
Sources

"Education Portal." What Is Tay-Sachs Disease? . N.p., n.d. Web. 22 Sept.

"Education Portal." What Is Tay-Sachs Disease? . N.p., n.d. Web. 22 Sept.
2014. <http://education-portal.com/academy/lesson/what-is-tay-sachs2014. <http://education-portal.com/academy/lesson/what-is-tay-sachsdisease-symptoms-genetic-cause-treatment.html#lesson>.
disease-symptoms-genetic-cause-treatment.html#lesson>.
"Structural Biochemistry/Tay-Sachs." - Wikibooks, open books for an open
"Structural Biochemistry/Tay-Sachs." - Wikibooks, open books for an open
world. N.p., n.d. Web. 22 Sept. 2014. <http://en.wikibooks.
world. N.p., n.d. Web. 22 Sept. 2014. <http://en.wikibooks.
org/wiki/Structural_Biochemistry/Tay-Sachs>.
org/wiki/Structural_Biochemistry/Tay-Sachs>.

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