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Genetic Disease Presentation - Tay-Sachs Disease

Tay-Sachs Disease

Michael Mulholland

on 5 November 2012

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Transcript of Genetic Disease Presentation - Tay-Sachs Disease

Genetic Diseases Tay-Sachs Disease Genetic Basis Mutation of HEXA gene on chromosome 15
Hereditary as autosomal recessive condition
Almost indistinguishable from Sandhoff disease* Treatment Research Enzyme replacement therapy:
-Involves infusion of regular Hex-A enzymes into an affected individual
-Introduced enzymes are able to control buildup of GM2
-Patients would need infusions for life Gene therapy:
-Injection of cells infected with a genetically-modified virus containing normal HEXA genes

-An anti-protozoal drug called Pyrimethamine can increase Hex-A activity (late-onset) General Information Three Forms: Classic Infantile Juvenile Late-Onset Classic Infantile The First Signs:
At birth:
appears normal
6 months later:
reduction in vision and tracking
Growth slows
After 6 months:
Gradual Loss of the ability to:
turn over
sit or reach out Other symptoms include:
loss of coordination,
inability to swallow
difficulty breathing.
By age 2 they have:
experience seizures
lost mental function
lost sight
Treatment only comforts patients at this age, most don't live past age 4 First signs:
lack of coordination
muscle weakness
May exhibit:
slurred speech
difficulties swallowing
muscle cramps Juvenile Tay-Sachs By: Michael Mulholland and Kunal Shah Hexosaminidase-A Enzyme in the lysosomes of neurons used to break down ganglioside GM2
Composed of three parts:
-Alpha subunit
-Beta subunit
-Activator subunit
Activator attaches to GM2 and binds to Alpha and Beta
GM2 is broken down through hydrolysis and reused Late Onset Tay-Sachs First signs:
Muscle weakness in legs
Slurred speech
Behavioral changes
Mental health
Mobility (start at age 4 - 5) (Later in life ) (At Birth) ~40% affected experience mental health symptoms such as:
psychotic episodes Who Does It Affect? Most common amongst descendants of
Jewish people of Eastern European background
French Canadians
Amish groups
Cajun community of Louisiana

Approximately 1 in every 27 Jews in the United States is a carrier of the Tay-Sachs disease gene.

About 1 in 250 are carriers for the rest of the population. Life Span / Prognosis Classic Infantile
Certain death by 2 to 4 years of age
Possible death by age of 15
Late Onset
Possibly non-fatal

Prognosis of Juvenile and Late Onset not completely known. There is no cure; too many different mutations
Only symptoms are treatable
Food needs to be cut up, thickened or thinned
may need a feeding tube for nutrition and to prevent inhalation of food
Medications can be used to control seizures
Treatment can extend late onset patients' life spans to regular length *Tay-Sachs affects HEXA alpha subunit, Sandhoff affects beta
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