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Progeria

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by

Hannah Wood

on 22 January 2014

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Transcript of Progeria

Symptoms
Treatment
Populations Affected
Life Expectancy
Chromosome Number & Locus
Growth failure during the first year of life
Narrow, shrunken or wrinkled face
Baldness
Loss of eyebrows and eyelashes
Short stature
Large head for size of face (macrocephaly)
Open soft spot (fontanelle)
Small jaw (micrognathia)
Dry, scaly, thin skin
Limited range of motion
Teeth - delayed or absent formation
No cure
Moniter cardivascular disease
low daily dose aspirin - prevent heart attacks and strokes
physical therapy - hep child remain active
There are no specific populations affected by Progeria.
There are only 100 reported cases in the world.
• Average Life expediency is 13 years, the oldest case reported was 21 years old
• Patients die from heart disease or stroke

On Chromosome 1
q21.2-q21.3
Autosomal dominant
Progeria
Investigational Treatment
FTIs shown promise in correcting cell defects
Farnesyltransferase Inhibitors developed for treating cancer
Causes
Mutation in LMNA gene (produces lamin A protein)
protein holds cell nucleus together
mutated cell nucleus unstable - leads to premature aging
Work Cited
mutation is usually sporadic
during the cell division in newly conceived zygote or in the gametes of one of the parents.
Photos:
"Copy of Progeria." Prezi.com. N.p., 17 Jan. 2013. Web. 10 June 2013.
"Effects and Symptoms of Progeria." Mshealth. N.p., 2013. Web. 10 June 2013.
"For School Reports." Progeria Research Foundation. N.p., n.d. Web. 10 June 2013.
"Menu." INFONETIC. N.p., n.d. Web. 10 June 2013.
"Meet the Kids." Progeria Research Foundation. N.p., n.d. Web. 10 June 2013.
"Progeria.ppt." University of Vermont. N.p., n.d. Web. 9 June 2013.
Staff, Mayo Clinic. "Treatment and Drugs." Mayo Clinic. Mayo Foundation for
Medical Education and Research, 23 Apr. 2011. Web. 07 June 2013.
Staff, Mayo Clinic. "Progeria-Causes." Mayo Clinic. Mayo Foundation for Medical Education and Research, 23 Apr. 2011. Web. 11 June 2013.
"Progeria." MedlinePlus. U.S. National Library of Medicine, 4 Aug. 2011. Web. 07 June 2013.
"What Causes Progeria?" Hutchinson-Gilford Progeria Syndrome. N.p., n.d. Web. 11 June 2013.

http://img.photobucket.com/albums/v253/neontetra67/progeria.jpg
http://farm4.staticflickr.com/3430/3276398150_197466c1a5.jpg
http://www.makehealtheasy.com/images/stories/health_updates/progeria-girl.jpg
http://www.istem.eu/wp-content/uploads/2012/10/progeria-1.jpg http://nimg.sulekha.com/others/original700/ontlametse-phalatse-2011-9-8-13-2-31.jpg
http://wiki.ggc.edu/images/e/e5/P22.jpg
http://www.thedoubts.com/images/pro33.jpg
http://4.bp.blogspot.com/_c6W_oX8IUN8/SvaolkuBzMI/AAAAAAAAAL4/fbDCD-68RVY/s320/ss_060623_sethcook_tease.300w.jpg



LMNA Gene
Full transcript