Werners Syndrome


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Werners Syndrome

  1. 1. By: Timothy Carr & Fannie Dorsey
  2. 2. <ul><li>Werner syndrome is characterized by the dramatic, rapid appearance of features associated with normal aging. </li></ul><ul><li>The characteristic aged appearance of individuals with Werner syndrome typically begins to develop when they are in their twenties and includes graying and loss of hair. </li></ul><ul><li>They may also have a facial appearance described as &quot;bird-like.&quot; </li></ul><ul><li>Many people with Werner syndrome have thin arms and legs and a thick trunk due to abnormal fat deposition. </li></ul><ul><li>People with Werner syndrome usually live into their late forties or early fifties. The most common causes of death are cancer and atherosclerosis. </li></ul>
  3. 3. <ul><li>Werner syndrome is inherited in an autosomal recessive pattern, which means both copies of the WRN gene in each cell have mutations </li></ul><ul><li>The parents of an individual with Werner syndrome each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. </li></ul><ul><li>1:2:1 ratio </li></ul>
  4. 4. <ul><li>affected individuals may develop disorders of aging early in life </li></ul><ul><li>cloudy lenses (cataracts) in both eyes </li></ul><ul><li>skin ulcers </li></ul><ul><li>type 2 diabetes </li></ul><ul><li>diminished fertility </li></ul><ul><li>severe hardening of the arteries </li></ul><ul><li>thinning of the bones </li></ul><ul><li>some types of cancer </li></ul>
  5. 5. <ul><li>Diagnosis of Werner syndrome is based on physical examination. </li></ul><ul><li>The most unusual thing about this syndrome is you start to look much older than you really are. </li></ul><ul><li>There are no specific laboratory tests for Werner syndrome. </li></ul>
  6. 6. Occurrence of Werner syndrome <ul><li>Approximately 1 in 20,000 or 13,600 people suffer from it in the USA </li></ul><ul><li>1 per 20,000 - 40,000 people suffer from Werner syndrome in Japan </li></ul><ul><li>Japanese are more likely to suffer from this disease </li></ul><ul><li>The trait for this disease is also recessive </li></ul>
  7. 7. Is there treatment for werners syndrome? <ul><li>since diabetes may occur in patience thier blood sugar level should be checked </li></ul><ul><li>Also artery disease may develop and cholesterol levels should be monitored </li></ul><ul><li>unfortunately there is no cure or specific treatment for Werner syndrome </li></ul>
  8. 8. Interesting info <ul><li>For future research scientists have developed a strain of mice which have all the symptoms of Werner syndrome </li></ul><ul><li>They plan to use the mice in research to look at the relationship between aging and cancer, as well as gaining insight into the mechanics of Werner syndrome. </li></ul><ul><li>Also called progeria of the adult </li></ul>
  9. 9. Infected individual <ul><li>Hayley Okines </li></ul><ul><li>The Child who is Older than her Grandmother </li></ul><ul><li>A tragic story of Hayley Okines a six year old girl born with a rare ageing condition known as Progeria. Her body also ages eight or ten times faster than those of other children and her life-expectancy will be extremely short. She is not expected to live beyond her early teens. She has been documented on news channels and much more. Her mother watches helplessly as her daughter suffers from hair loss, arthritis and heart problems. Despite her terrible disease, Hayley is a bright natured child who is popular at school. She is full of life, she doesn't wallow in self-pity and she is just a happy child. </li></ul>
  10. 10. <ul><li>http://ghr.nlm.nih.gov/condition=wernersyndrome </li></ul><ul><li>http://www.mymultiplesclerosis.co.uk/misc/hayleyokines.html </li></ul><ul><li>http://rarediseases.about.com/od/rarediseasesw/a/100304.htm </li></ul>