Progeria, also known as Hutchinson-Gilford Progeria Syndrome, is an extremely rare genetic disorder causing rapid aging in children. It is caused by a mutation in the LMNA gene producing abnormal lamin A protein called progerin. Children with Progeria appear normal at birth but show signs of aging including hair loss, stiff joints, and cardiovascular problems. They typically die of heart attacks or strokes in their early teens. In 2012, the first drug treatment using farnesyltransferase inhibitors was discovered, showing promise in reducing progerin and improving flexibility of blood vessels and other symptoms for children in clinical trials.
3. • Progeria (HGPS), also known as
Hutchinson-Gilford syndrome,
is an extremely rare
• progressive genetic disorder that
causes children to age rapidly
What is progeria ?
5. Signs & symptoms
Slowed growth , below average height &
weight
Hardening & thightenning of skin
Narrowed face Delayed & abnormal tooth formation
Head disproportionality large for face Some hearing loss
Prominent eyes Lose of fat under the skin & loss of muscle
mass
Hair loss, including eyelash & eyebrow Fragile bones
Visible veins Stiff joints
Physical
issues
Health
issues
6. Most children with progeria die of complications
related to atherosclerosis, including:
cardiovascular problems cerebrovascular problems
heart attack stroke
Other health problems frequently associated with
aging — such as arthritis, nearsightedness and
increased cancer risk — do not develop as part of the
course of progeria
blood vesseles that
supply
7. LMNA is not expressed by the brain cells, so the
gene mutation does not affect the brain
Children with Progeria are intelligent and full of
energy just like other kids their age.
10. Until …..23 October 1996
Dr. Scott BernsDr. Leslie Gordon
1998 : sam’ s disease was dignosed.(at 22 months)
1999: Drs. Leslie Gordon and Scott Berns, established The Progeria Research Foundation
2003 : the cause of disease was discovered.
2012: the first-ever drug treatment was discovered.
12. What is the cause of Progeria?
HGPS is caused by a mutation in the gene called
LMNA (pronounced “lamin-a”).
The LMNA gene produces the lamin A protein
which is the structural scaffolding that holds the
nucleus of a cell together.
The abnormal lamin A protein that causes Progeria
is called progerin. Progerin makes the nucleus
unstable. That cellular instability leads to the
process of premature aging and disease in
Progeria.
16. Tests and diagnosis
• Doctors may suspect progeria based on signs
and symptoms characteristic of the syndrome.
A genetic test for LMNA mutations can
confirm the diagnosis of progeria.
17.
18. • What are FTIs? Farnesyltransferase inhibitors,
or FTIs, are a class of drugs that can reverse an
abnormality in Proeria cells.
Lonafarnib, a farnesyl transferase inhibitor
19. How will they work in Progeria?
• The protein that we believe is responsible for
Progeria is called progerin.
• In order to block normal cell function and cause
Progeria, a molecule called a “farnesyl group”
must be attached to the progerin protein. FTIs act
by blocking (inhibiting) the attachment of the
farnesyl group onto progerin. We believe that if
the FTI drug can effectively block this farnesyl
group attachment in children with Progeria, then
progerin may be “paralyzed” and Progeria may be
improved.
20. in September 2012 when the first-ever drug
treatment was discovered. Every child in the
clinical trial involving Lonafarnib, a farnesyl
transferase inhibitor, showed improvement in
one or more of four ways:
• gaining additional weight
• better hearing
• improved bone structure
• most importantly, increased flexibility of
blood vessels
21. Treatment didn't come soon enough for Sam. But he and his
parents spent his short, remarkable lifetime pushing science and
understanding forward.
Sam Berns
23/10/96 - 10/01/14