Description of TaySachs Cause of TaySachs Example and advice

disease
TaySachs disease is an
inherited metabolic illness in
which certain lipids
accumulate in the brain. This
causes spasticity and death
in childhood. TaySachs
disease is a rare recessive
disorder. It causes
progressive deterioration of
meme cells and mental,
physical abilities

Tay-Sachs
disease is caused by a
genetic mutation in the
HEXA gene. This mutation
affects the production of
an enzyme called
Hexosaminidase-A (Hex-A).
Enzymes are proteins the
body uses for chemical
reactions. If you only
receive one copy of the
mutated gene from one of
your parents, you won't
develop Tay-Sachs disease.
However, you'll be a
carrier of the mutated
gene.

A couple who wants to get married but TaySachs have occurred in both their families.
If you're a carrier of a HEXA mutation and
you have a baby with a partner who is also a
carrier of a HEXA mutation, there's:
a 25% chance the baby will receive a
pair of normal genes and won't
develop the condition

a 25% chance the baby will receive a

pair of mutated genes and will develop
Tay-Sachs disease

a 50% chance the baby will receive

one normal gene and one mutated
gene, and will become a carrier of a
HEXA mutation but won't develop the
condition

Sources
used

Wikipedi
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