Progeria

toc =Progeria = Will Utzschneider and Joey Chery-Valentin

= =

Introduction
Progeria is a genetic disorder which causes children to age rapidly. It is caused by a mutation in the LMNA gene. It is a very rare disease, and there have been only 100 cases recorded in scientific literature since the first known case in 1886. Since the disease is relatively modern, there is no evolutionary history. One in 1,000,000 babies have this. Symptoms include graying hair, hair loss, a high pitched voice, thin skin, loss of fat, wrinkles, decreasing muscle mass and more. If you have progeria, chances that your brother or sister will have it are very small. A treatment for progeria was discovered in May 2008 and kids who have the disease fly into Boston, MA from around the world weekly to get the treatment and drugs. There seems to be no pattern of inheritance as the disease shows up sporadically but it is possible to be a carrier. The disease is not exclusive to any one group of people, though 97% of those who have the disease are Caucasian.

Video
media type="youtube" key="8D4S3pDjPiU" height="344" width="425"

Effects
Progeria is a rapid aging disease that causes those who have it to appear older than their true age//.T//he symptoms are graying and loss of hair, loss of fat, wrinkling, and decreasing muscle mass. The average life expectancy of a child with progeria is age 13 though the oldest ever has lived to age 30. The causes of death are heart and nerve failures. Children with progeria go to school. Unfortunately, they will probably never live until the age when they can live independently on their own or have their own children. Adaptations in the house may include a low door handle or a low sink to provide a feeling of self esteem.

LMNA Gene
The LMNA gene's main function in the body is to produce the protein called lamin. Two major proteins, lamin A and lamin C, are producded. The LMNA gene causes progeria when the protein base cytosie is replaced by thymine.

Treatment/Prognosis
On May 7th, 2007, a progeria clinical drug trial began. An average of two families has been flying into Boston each week, and in October 2007 the trial became fully enrolled. Treatments may include:
 * Food supplements when a child eats less than the number of calories they need.
 * Homeopathic or biochemical medicines to delay effects of arteriosclerosis and reduce pain.
 * Regular visits to the dentist.
 * Bath essences and body lotions to help prevent dryness of thin skin.

These are just treatments, but progeria really can't be cured. Sadly, you will likely die at an early age. We hope that they will continue progeria reserch in the future.

Discussion Question
You have just had a child who is diagnosed with progeria. How do you tell your older children, ages 5 and 8, about this disease?

Punnett Square⠀⠀
A male normal for progeria (XP Y) mates with a female who is a carrier (XP Xp). What percentage of females will be carriers? 50% What percentage of females will have it? 0% What percentage of males will have it? 50%
 * || XP || Y ||
 * XP || XP XP=normal || XP Y=normal ||
 * Xp || XP Xp=carrier for progeria || Xp Y= progeria ||


1) Mayo Clinic Staff. “Progeria.” //Mayo Clinic//. 24 Apr. 2007. Mayo Foundation For Medical Education and Research. 5 Jan. 2009 . Path: Wikipedia: Google. (1) 2) “Information Progeria.” //Information Progeria//. 11 June 2006. 10 Jan. 2009 . Path: Wikipedia;Google. (2)  3) Kugler, Mary. “Progeria Syndromes.” //About Rare Diseases// . 3 Oct. 2004. 10 Jan. 2009 . Path: Google. (5)      4) Saltzer, Brooke. “Gene Mutation Causes Progressive Cell Structure In Children With Progeria.” //Eureakalert//. 8 June 2004. 10 Jan. 2009 .(6) 5) Netteke, Tante. E mail interview. Jan. 2009. - - -. E mail interview. Jan. 2009. - - -. E mail interview. Jan. 2009. (7) 6)<span class="Apple-style-span" style="font-size: 9px; line-height: normal; font-family: 'Times New Roman';">“Intelligent Design.” //Oshkosh Free Thinkers//. 10 Jan. 2009 <http://oshkoshfreethinkers.org/‌intelligentdesign>. Path: Google.(3) 7)“Ashley Hegi Progeria.” //You Tube//. 12 Aug. 2007. 10 Jan. 2009 <http://.youtube.com/‌watch?v=8D4S3pDjPiU>. Path: You Tube; Google. (4) 7) “LMNA.” //Genetics Home Refrence//. July 2007. U.S. National Library of Medicine. 12 Jan. 2009 <http://ghr.nlm.nih.gov/‌gene=lmna>.