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Description

Progeria is an extremely rare disease affecting few newborns. It involves accelerated aging in children. There are several forms of this disease with Hutchinson-Gilford Progeria Syndrome(HGPS), being the most severe. As a result of this, children with this condition receive attributes and physical ailments of the elderly. Major health issues associated with the elderly, in the end cause fatality, usually in the early years of adolescence.

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Symptoms

They contain distinct traits and attributes distinguishing the elderly.
Growth rate slows drastically along with weight.
Those affected are impaired by common ailments of the elderly.
Major health issues and diseases also become present, eventually resulting in fatality at a young age.

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Statistics

Progeria is an extremely rare disease affecting 1 in 4-8 million newborns of different racial backgrounds.
Average life span is 13 years of age.
Newborns appear normal, but begin to show symptoms at 18-24months of age.
There is a 100% fatality rate.

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Chromosome Location

Mutation is on LMNA (pronounced lamin-a) gene.
Gene also known as Lamin A/C.
On the long arm of chromosome one.
Between positions 21.2 and 21.3.

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Inheritance Pattern

Progeria is a “sporadic autosomal dominant mutation.”
Parents do not carry the disease and it does not run in families.
Families that have one child with Progeria have an increased chance of having another child with it.
Since it is “sporadic” the Punnett Square is impossible.

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Reproduction

This disease is not passed on genetically.
Most with it die very young and do not have the chance to reproduce.

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Cause of Symptoms As A Result of Genetic Defect

Lamin A/C are structural proteins that provide stability and strength to cells.
Mutation creates instability in nuclear envelope.
Causes cells to die and the nucleus to become damaged.
The protein causing Progeria is Progerin.

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Treatments/Cures

There are no cures for Progeria.
Many different methods of treatment have been created.
Forms of therapy have been adapted for the disease.
New drug treatments are being tested.

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Additional Information

Hutchinson-Gilford Progeria Syndrome is named for two doctors who discovered it.
This disease does not affect mental capabilities and intelligence of the affected.
The word Progeria is greek for “prematurely old.”
The oldest person with Progeria lived to be 26 years old.

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Works Cited

"About Progeria." Progeria Research Foundation. N.p., 7 Mar 2013. Web. 9 Mar 2013

Blachford, Stacey. The Gale Encyclopedia of Genetic Disorders. 2. Thomson Gale: Dale Dubin, 2005. Print.

Haldeman-Englert, Chad. "Progeria." MedlinePlus. N.p., 27 Feb 2013. Web. 9 Mar 2013.

"Hutchinson-Gilford progeria syndrome - Genetics Home Reference." Genetics Home Reference- Your guide to understanding genetic conditions. 4 Mar 2013. Web. 6 Mar 2013.

"Learning About Progeria." National Human Genome Research Institute (NHGRI) - Homepage. 27 Jun 2011. Web. 6 Mar 2013.

"LMNA - lamin A/C - Genetics Home Reference." Genetics Home Reference - Your guide to understanding genetic conditions. 4 Mar 2013. Web. 6 Mar 2013.

Narins, Brigham. The Gale Encyclopedia of Genetic Disorders M-Z. Detroit: Thomson Gale, 2005. Print.

" Progeria: HutchinsonGilford Progeria Syndrome (HGPS) - American Pregnancy Association." American Pregnancy Association - Promoting Pregnancy Wellness. Oct 2007. Web. 6 Mar 2013.

"Progeria: MedlinePlus Medical Encyclopedia." National Library of Medicine - National Institutes of Health. 4 Aug 2011. Web. 6 Mar 2013.

"Progeria Research Foundation | Home." Progeria Research Foundation | Home. 5 Mar 2013. Web. 6 Mar 2013.

Wynbrandt, James, and Mark D. Ludman. The Encyclopedia of Genetic Disorders and Birth Defects. New York, NY: Facts on File, 2000. Print.

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