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Progeria

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Kristen Attard

on 4 December 2014

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Transcript of Progeria

According to the Progeria Research Foundation, Hutchinson-Gilford Progeria Syndrome ("Progeria", or "HGPS") is a rare, fatal genetic condition characterized by an appearance of accelerated aging in children.
Children with Progeria generally appear normal at birth, but by 12 months symptoms begin to appear.
The median age at diagnosis of HGPS is 2.9 years
The average life expectancy is about 13, but some with the disease die younger and some live 20 years or longer.
What is Progeria?
Hutchinson-Gilford Progeria Syndrome
There is no degeneration of cartilage in children who are not affected by Progeria.
Normal growth and weight are expected.
Children without Progeria have larger bones and thus stronger.
There is a significant amount of subcutaneous fat present all over the body, but specially in the feet, which cushions the impact of daily activities (e.g. walking, running).

Normal Organ System Functioning of Children
The gene causing Progeria was discovered in 2003 by a group of researchers working through the Progeria Research Foundation.
The misspelling of the DNA sequence of LMNA gene causes HGPS.
The LMNA gene (found in the cell nucleus) is normally responsible for making a protein called Lamin A which helps maintain the shape and the function of the cell.
This mutation causes the gene to produce an abnormal Lamin A protein called progerin.
As the children age, progerin builds up in blood vessels, skin, and bones causing the accelerated aging.
The Origin of the Disease
97% of the patients are Caucasian
The reason for this disparity of unknown.

The male-to-female ratio is 1.5 : 1

There are approximately 350- 400 children living with progeria worldwide at any given time.
The Epidemiology of Progeria
All known children living with Progeria now have access to these treatments due to its limited harmful side effects.
Negative side effects from the FTI treatment include defects in centrosome separation leading to a doughnut shaped nuclei.
A full list of the outcomes of the Triple Drug Trial has yet to be made due to researchers examining the effects on all the children involved throughout their lifetime.
Adverse Affects
About Progeria. (2014). Retrieved November 24, 2014, from http://www.progeriaresearch.org/

Shah, Kara N., MD, PhD. "Hutchinson-Gilford Progeria ." <i>Hutchinson-Gilford Progeria</i>. 20 Aug. 2013. Web. 28 Nov. 2014. &lt;http://emedicine.medscape.com/article/1117344-overview#a0199&gt;.

Gordon LB, Brown WT, Collins FS. Hutchinson-Gilford Progeria Syndrome. 2003 Dec 12 [Updated 2011 Jan 6]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1121/

Jean-Ha Baek, Tomás McKenna and Maria Eriksson (2013). Hutchinson-Gilford Progeria Syndrome, Genetic Disorders, Prof. Maria Puiu (Ed.), ISBN: 978-953-51-0886-3, InTech, DOI: 10.5772/53794. Available from: http://www.intechopen.com/books/genetic-disorders/hutchinson-gilford-progeria-syndrome

Merideth, Melissa A. et al. “Phenotype and Course of Hutchinson–Gilford Progeria Syndrome.” The New England journal of medicine 358.6 (2008): 592–604. PMC. Web. 24 Nov. 2014.

Collins, Francis S. "NIH Fact Sheets - Progeria." NIH Fact Sheets - Progeria. National Institute of Health, 29 Mar. 2013. Web. 30 Nov. 2014. <http://report.nih.gov/nihfactsheets/viewfactsheet.aspx?csid=59>
References
Impact on the Organ System
Symptoms of Progeria Include:
Ten-year old HGPS male exhibiting “double rows” of maxillary teeth.
10-year old Caucasian male and 5–year old Caucasian female
©2006 by The Progeria Research Foundation
Clavicular resorption
Origin of the disease:
Treatments
GENETICS
Slowed growth (below
average height and weight).
Loss of subcutaneous fat.
Beaked nose, narrow face, and small lower jaw.
Alopacia:
Hair loss, including eyelashes and eyebrows.
Visible scalp veins
No earlobes are visible, cartilaginous-bony body.
Limited range of motion
Distinctive appearance:
There is no known cure
A child suffering with Progeria would usually take medication to get rid of or slow down the symptoms of aging.
However, the Progeria Research Foundation recently funded a study researching the effects of Lonafarnib, a type of farnesyltransferase inhibitor (FTI) originally developed to treat cancer. Researchers found this clinical drug effective for children diagnosed with Progeria and found improvements in gaining additional weight, hearing, bone structure, and flexibility of blood vessels.
However, there is no specific treatment that deals with hair loss or skin abnormalities.
The Progeria Triple Drug Trial
Symptoms:
Health issues
Hardening and tightening of skin, which restricts motion.
Abnormal and delayed tooth formation.
Hearing loss
Fragile bones
Stiff joints
Osteoarthritis, which can cause hip dislocation.
Heart disease
Atherosclerosis (thickening and hardening of the arteries).
Upper extremity asymmetries
Reduced upper extremity strength.
This clinical research trial was funded by the Progeria Research Foundation. It began in 2009 including 45 children from 24 different countries.
Researchers have identified two additional drugs that, when used in combination with the current FTI drug being tested (lonafarnib), may provide an even more effective treatment for children with Progeria than FTI’s alone. Pravastatin and zoledronate were added to the current treatment with lonafarnib.
It was found that these drugs could be taken in conjunction with lonafarnib without serious side effects
Large size of the entrance of the external auditory canal
Strokes and cerebrovascular disease are one of the leading causes of morbidity and mortality in children with Progeria.
Treatments are not only given to stop the aging process, but to also deal with the other health complications that stem from the disease.

The treatments that help most of the complications brought on by Progeria:
Physical Therapy
Occupational Therapy

A regular diet is recommended, unless complications arise.

As a result of the loss of subcutaneous fat, shoe pads are recommended.

Swimming has also been shown to help with joint flexibility. However, there are also problems with pools because of the severe lack of body fat that children with Progeria face, which is used to insulate the body.
Treatment for Osteoarthritis
A painful, chronic, and incurable form of arthritis.
This type is a non-inflammatory arthritis by progressively breaking down hyaline cartilage, thus affecting diarthrodial joints .
Because this syndrome causes pain, deformity, and limitation of motion, it is imperative that it is treated.
In Progeria patients, Osteoarthritis occurs as a result of joint instability caused by the anatomic misalignment.
Treatment can help relieve pain and stiffness, but the cartilage degradation may continue.
Treatment for non-severe cases include physical therapy to restore range of motion, muscle strength, and anti- inflammatory medications to relieve the pain.
Surgery may be needed.
Coxa valga - The normal angel for the femoral head and the acetabulum is approx 125
©2013 Hutchinson Gilford Progeria Syndrome
Immunostaining of skin fibroblasts taken from a normal individual (left) and a patient with Progeria (right) showing nuclear blebbing.
In 2003, a genetic test for Progeria was developed.
Before the test was developed, doctors were only able to diagnose progeria by looking finding physical symptoms, such as skin changes and failure to gain weight.
These physical symptoms were not fully apparent until a child's first or second year of life, which gave a somewhat late diagnose.
This genetic test now enables doctors to diagnose a child at a younger age and initiate treatment early in the disease process.
The test
Abnormal and delayed dentition is common, and thin/tight skin results from significant loss of subcutaneous fat.
HGPS patients have high-pitched voices, a horse-riding stance, limited joint mobility and have short stature.
Median final height of 100-110 cm; median final weight of 10-15 kg.
As they mature, they develop osteolysis, particularly involving the distal phalanges and clavicles.
Higher amounts of the Lamin A protein, progerin, in cells causes accelerated aging in the majority of the organ systems.
Mortality

Impact on the Organ System
Children diagnosed with HGPS exhibit dramatically accelerated cardiovascular disease causing strokes between the early ages of 7-20 years old
Research
Further research in Progeria will not only find a cure for the children affected, but may also provide keys for the millions of adults suffering with strokes and heart disease brought on by the natural aging process.
© 2013 The Progeria Research Foundation
Global joint
contractures
Associated with bone deformities early in life and can occur in all joints of the body.
These impairments are progressive and impact the patient's ability to perform daily activities.
Wrists typically have limited dorsiflexion
Top: Arm of child without Progeria
Bottom: Arm of child with Progeria
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