PROGERIA

PROJECT BY:
LUNC RAICHICI DANIEL
MAN GABRIELA
2ND YEAR GM, SERIES C, GROUP 17

1. Definition
What is a rare disease?
A disease or disorder is defined as rare in
Europe when it affects less than 1 in 2000
people.
A disease or disorder is defined as rare in the USA
when it affects fewer than 200,000 Americans at any
given time.
Progeria affects 1 in 18 million people.

2. Description of the disease

Progeria (referred as HutchinsonGilford

progeria syndrome, ) is an extremely rare genetic
disorder where symptoms of aging are manifested at a
very early age.

3. Symptoms and causes

Children with progeria usually develop the first symptoms during their
first few months of life. The earliest symptoms may include a failure to
thrive (insufficient weight gain) and a localized skin condition. As the
child ages past infancy, additional conditions become apparent usually
around 1824 months. Limited growth, full-body alopecia (hair loss),
and a distinctive appearance (a small face with a shallow recessed jaw,
and a pinched nose) are all characteristics of progeria. Signs and
symptoms of this progressive disease tend to become more marked as
the child ages. Later, the condition causes wrinkled skin, atherosclerosis,
kidney failure, loss of eyesight, and cardiovascular problems.
Scleroderma, a hardening and tightening of the skin on trunk and
extremities of the body, is prevalent. People diagnosed with this disorder
usually have small, fragile bodies, like those of elderly people. Prominent
scalp veins are noticeable (made more obvious by alopecia), as well as
prominent eyes. Musculoskeletal degeneration causes loss of body fat
and muscle, stiff joints, hip dislocations, and other symptoms generally
absent in the non-elderly population. Individuals usually retain normal
mental and motor development.

 In 2003, the cause of progeria was discovered to be

a point mutation in position 1824 of the LMNA

gene, in which cytosine is replaced with thymine.
This mutation creates an abnormal variant of the
prelamin A protein . Since the support that the
nuclear lamina normally provides is necessary for
the organisation of chromatin during mitosis,
weakening of the nuclear lamina limits the ability
of the cell to divide. Unlike "accelerated aging
diseases" progeria is not caused by defective DNA
repair.

4. Signs

Signs and symptoms:

skin changes
abnormal growth
loss of hair
A genetic test for LMNA mutations
can confirm the diagnosis of progeria.

5. Prevention
There is no evident prevention for progeria since

progeria is still a relative unknown and mysterious

disease.
However, it has been recently discovered that FTIs, a
drug that has a possibility to help cure progeria,
might also be abe to prevent the mishappen nuclei in
progeria cells. After experiments, it showed that this
drug was effective because it prevented the abnormal
protein from reaching the scaffolding of the cell
nucleus.

6. Treatment
No treatment has proven effective. Most treatments focus

on reducing complications (such as cardiovascular

diseases) with coronary artery bypass surgery or lowdose aspirin. Children may also benefit from a highenergy diet. Growth hormone treatment has been
attempted. A type of anticancer drug,has been proposed,
but their use has been mostly limited to animal models.
In studies on the cells another anti-cancer drug,
rapamycin, caused removal of progerin from the nuclear
membrane through autophagy. However, it is important
to remember that no treatment is able to cure progeria
yet.

7. Prognosis
As there is no known cure, few people with progeria exceed 13

years of age. At least 90% of patients die from complications

of atherosclerosis, such as heart attack or stroke.
Mental development is not adversely affected; in fact,
intelligence tends to be normal to above average. With respect
to the features of aging that progeria appears to manifest, the
development of symptoms is comparable to aging at a rate
eight to ten times faster than normal. With respect to the
features of aging that progeria does not exhibit, patients show
no neurodegeneration or cancer predisposition. They also do
not develop the so-called "wear and tear" conditions
commonly associated with aging, such as cataracts (caused by
UV exposure) and osteoarthritis (caused by mechanical wear).

8. Complications

Complications are usually caused

by the other conditions implied by

progeria such as arthritic,
respiratory, and cardiovascular
problems, for which treatment is
possible.

9. Q&A
1) What defines a rare disease?
2) What is progeria?
3) How can it be prevented, if thats possible?
4) What are the odds for someone with progeria to
pass 13 years?
5) What is the most common cause of death in case of
progeria-related diseases?

Bibliography
http://www.rarediseaseday.org/article/what-is-a

rare-disease
http://www.genome.gov/11007255
https://mshealth.wikispaces.com/PREVENTION+O
F+PROGERIA
http://en.wikipedia.org/wiki/Progeria
https://www.facebook.com/AdaliaRose?fref=ts