Monday, March 21, 2011

Werner Syndrome !

Werner Syndrome

What is Werner Syndrome? a VERY rare disorder , that affect a person(male/female) aging process


Werner Syndrome

Werner syndrome is a VERY rare disorder that speeds up a persons aging process

Otto Werner was the first to define Werner Syndrome (using sclerodermalike)
Also known as Progeria Adultorum
Not common to one particular race
Usually patients survive to be 46 years old (no older)
Estimated incidents are 1 in 1 million
Most common in Japan and Sardinia
1000 cases are reported each year, 800 of which are in Japan
Both female and males are affected equally
It may occur in mid teens, or it can be delayed until around the age of 30

Symptoms:
1. Wrinkling and sagging of the face
2. Decreasing muscle mass
3. Thin skin and loss of fat under the skin
4. Graying hair and hair loss
5. A high-pitched voice

d. This disease can be passed from generation to generation; alterations in the WRN gene are what cause Werner Syndrome.
This disease is autosome recessive.

Diagnoses:
To be diagnosed you have to exemplify some or all of the symptoms some of which are; contracts in both eyes, skin changing associated with aging, short stature, and early graying or thinning of hair.

There is no cure or specific treatment for Werner Syndrome
Telomerase activity and telomere extension is some what is used to prevent Werner Syndrome.
Telomerase activity is an enzyme that prevents chromosomes from shortening, when they divide.
Telomere extension is a procedure to solve and end the replication problems in some enzymes

A miss diagnosis was done on a young 12 year old girl, who was told she had Werner Syndrome and would start showing apparent symptoms around the age of thirty. The miss diagnosis was done because this particular girl show warning signs of Werner Syndrome, but as the time went passed, those warning signs started to disappear and she was later told she had no form of Werner Syndrome and did not have to complete the healing process. This incident was characterized as a misdiagnosis.

Quiz !
1. What are 2 apparent symptoms of Werner Syndrome?
- Aging and/or thinning of hair
2. What gene carries/inherits Werner Syndrome?
- WRN gene
3. Where is Werner Syndrome most common (country/countries)?
- Japan and Sardinia
4. What is another known name for Werner Syndrome?
- Progeria Adultorum
5. What are some ways to prevent Werner Syndrome?
- Telomerase activity and telomere extension

4. http://www.progeriaproject.com/Progeria/Richland1.htm

5. http://www.youtube.com/watch?v=PZWo6-jI-Y8&safety_mode=true&persist_safety_mode=1

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