Thursday, October 7, 2010

Werner Syndrome

Werner Syndrome or WS is also known Adult progeria and is a very rare autosomal recessive disorder, that comes from a mutation in the WRN gene. Its presence is indicated by premature aging. WS affects on average 1 out of 200,000 people in the U.S

Symptoms:

People with Warner Syndrome, don't start showing symptoms of the disorder until they reach puberty; after puberty, thats when rapid aging begins, and by the time theyre well into their adult years ( 30's-40's) they appear to be in their 60's or 70's. Another symptom of WS is the lack of a teenage growth spurt, which results in a short stature or posture. Other symptoms that occur later on are loss of hair or graying of the hair, hoarseness of the voice and cataracts in both eyes. People with WS are also affected by other diseases such as Cancer, heart disease, atherosclerosis and diabetes mellitus.
Genetics:
Warner Syndrome is located on chromosome 8 in humans and is a chromosome number disorder.
Warner Syndrome can be inherited by both the father and the mother because both parents carry a recessive gene for the disorder, but they are only carriers of the disease because they do not possess two recessive genes of the disorder.
The disorder becomes evident probaly in the early 20's and late 30's. WS cannot be detected before birth because you can't get a DNA sample from the baby while its in the wound and because the disease does'nt "activate" until puberty or late 20's. The parents can be tested to see whether theyre carriers or not, by having a simple DNA test administered to determine whether they carry a copy of the recessive gene. If both parents carry a mutated WRN recessive gene, Then one of their children will have Werner Syndrome.
Enviroment:
The enviroment can be altered in a way to help a person with WS because they usually suffer from other diseases as well, but there is nothing that can really slow it down because the average person with WS lives to be most 48-50 years old. There was a lab experiment published (2010) on mice that when introduced to Vitamin C, it restored them back to normal and lifespan increased;after Vitamin C was put into their drinkin water. The experiment has not been tested on humans or has not been confirmed yet.