Extreme Aging:

Progeria Syndrome
by Gabby Kaufman
Progeria syndrome was first
described by Jonathan
Hutchinson in 1886, and then
again by Hastings Gilford in 1897.
For this reason, it is also known as
Hutchinson-Gilford Syndrome or
Hutchinson-Gilford progeria.
Progeria is an extremely rare
monogenic disorder, meaning it is
a genetic disease caused by a
mutation in one gene. Although it
Main
Points:
- What is the disease?
- How is it caused?
- What are the
symptoms?
- How does the cause
and/or symptoms relate
to a cell process?
- What disease states/
problems can result from
the process not occuring
correctly?
- How can these
statements be backed
is technically a genetic disorder, up with specific
the mutation is created examples of the
sporadically and generally not
inherited, and only about 1 in
process, what was
every 8 million people are born learned in class/lab, and
with this mutation. Above is a the disease with
photo of a progeria patient along
with two photos of a cell nucleus,
references?
the top being that of the average
human and the bottom being that
of a progerin carrier.

All the symptoms associated with progeria can be
defined in general as rapid aging. These include hair
loss (even eyelashes and brows), seemingly aged or
loose skin, puckered face, a head that appears too large
for face, prominent scalp and veins, a small lower jaw, a
high pitched voice, stiff joints, hip dislocation, loss of
body fat and mucle, and delayed or abnormal tooth
formation. Most children with progeria die at about
age 13, over 90% of those as a result of
artherosclerosis, like heart attack or stroke. Progeria is
caused by a mutation in the lamin A protein (LMNA)
gene on chromsome 1, rendering cells unstable. This
protein helps to hold the nucleus together and
organize nuclear processes such as RNA and DNA
synthesis. Henceforth, the cellular processes that can
be linked to the gene mutation are DNA synthesis, for
the gene mutation itself, and protein synthesis, since
the gene mutation causes an ineffective protein. We
have seen in class through a interactive DNA
replication site that gene mutations can affect the
entire human genome, as is present in progerin (the
mutated LMNA). We have also learned that protein
synthesis is crucial in healthy bodily functions. As
previously stated, progeria is a monogenic disorder,
which are usually inherited in some fashion; however,
the inheritence pattern for HGPS seems to be almost
completely random. Some examples of other
monogenic disorders are cystic fibrosis, sickle cell
anemia, Marfan syndrome, Huntingdon’s disease, and
hereditary hemochromatosis.