Taysachs Disease

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Tay-sachs Disease

• By Safi Rothschild

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Tay-sachs Disease

• Other common names
• TSD
• GM2
• gangliosidosis
• Hexosaminidase A deficiency
• Sphingolipidosis

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What is Tay-Sachs

• Tay-Sachs disease is a fatal genetic disease. A
  fatty substance called GM2 ganglioside gradually
  accumulates in the brain. As the brain cells
  become engorged with this fat, mental and
  physical abilities disappear, never to be
  regained.
• The great majority of those with Tay-Sachs
  disease have the infant-onset form. Very rarely
  the symptoms begin in later childhood, or even in
  the twenties or thirties.
• ltwomenshealth.comgt go to credits.

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Mode of Inheritance

• Tay-sachs is a genetic inherited disease and is
  inherited in all chromosomes (autosomal) other
  than sex chromosomes.

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What is the occurrence of the disorder in
births?

• Today, the disease is nearly extinct. The
  doctors believe that hopefully in a few years
  there will be no cases at all.

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Punnett Square

• Parents are both heterozygous

T
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Tt
T
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Tt
r Tay-Sachs
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Symptoms of Tay-Sachs and Detection

• A light cherry red spot in the middle of the eye
• Deafness
• Blindness
• Loss of Muscle strength
• Delayed mental and social skills
• Loss of brain function
• Slow growth
• Loss of motor skills
• Irritability
• Paralysis
• Seizures .

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Diagnostic Testing

• Tay-sachs can be detected by the following tests
• Screening - is inexpensive laboratory methods for
  measuring enzymatic activity which detects lower
  levels of the enzyme hexosaminidase A (an enzyme)
  in serum.
• Genetic progoesting that are based on polymerase
  chain reaction
• A blood test

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Prognosis

• The survival rate is for Tay-sachs is 0. All
  babys diagnosed with Tay-sachs have not lived
  past the age of five.

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Treatment

• Currently, there no ways to cure Tay-sachs,
  however there are drugs to slow it down while
  making it less painful.

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Current Research

• What biotechnological applications are currently
  being used in the fight against this disease?

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Genetic Counseling

• What would a genetic counselor tell parents who
  had the disorder or were carriers of the disorder
  about the chances their children would have the
  disorder?

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Graphics?
http//www.aps.anl.gov/News/APS_News/2004/20040116
.htm
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Additional Interesting Facts

• There is a juvanile form of Tay-sachs, which
  usually ends a teens anywhere between 13 and 18
  However it is rare.
• Even more rare, is the adult form of Tay-sachs,
  which usually ends people life between 20-30.

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Credits

• http//www.sciencemuseum.org.uk/exhibitions/genes/
  232.asp
• http//en.wikipedia.org/wiki/Tay-sachs
• http//womenshealth.about.com/gi/dynamic/offsite.h
  tm?zi1/XJ/Yasdnwomenshealthcdnhealthtm23f
  10sup247.2.140.ip_p284.8.150.ip_tt14bt0bts
  0zuhttp3A//www.drgreene.com/21_1202.html