Tay Sachs Paper (with Outline)

I. What is Tay-Sachs..?
  A. Simple Facts
      1. Named after Warren Tay and Bernard Sachs
      2. Involves protein ganglioside GM2 and enzyme Hex-A
      3. Gene mutation located in Chromosome 15
  B. Cause
      1. Cause by lack of protein enzyme Hex-A
      2. Inherited from both parents
      3. Ganglioside GM2 accumulates abnormally in the brain
C. Victims
      1.Found in the Ashkenazi Jews
          a. 1 out of 27 Jews is affected
      2. Found in French-Canadians
          a. 1 out of 250 people affected
      3. Found in Louisiana Cajuns
          a. 1 out of 27 people affected
D. How to diagnose it
      1. Diagnosis in adults results in blood testing
          a. If the Hex-A measurements are high, the test results positive
      2. Diagnosis in stages of infancy
          a. After 6 or 7 months, the child will have stopped moving or
              showing healthy signs in the womb.

II. Tay-Sachs and its outcomes
    A. Effects of Tay-Sachs
      1. Mental and physical abilities lost
          a. Blindness and Deafness
          b. Not being able to swallow
          c. Paralysis
          d. Atrophy of the muscles
          e. Central nervous system breaks down
  B. The patient after birth
      1. Reaching age 3 - 4
          a. Nervous system damaged so badly life cannot go on
      2. Reaching age 2
          a. Child has gone through recurrent seizures
          b. Mental abilities fade
      3. Symptoms
          a. Chronic seizures
          b. Not being able to move
          c. Coordination Loss
          e. Red spot in the back of the eye
      4. Death
          a. Death occurs by age 5
           
III. Is there only one case?
    A. Classical Tay-Sachs
      1. Occurs in infants
    B. Juvenile Tay-Sachs
      1. Occurs in people with Hex-A mutation in bloodstream
      2. Develop symptoms of classical Tay-Sachs from ages 2-5
      3. Die by age 15
    C. Chronic Tay-Sachs... [continues]

Read full essay