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-1 in 27 Jews

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Is it more common in a certain group of people? 

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Is it more common in a certain group of people? 

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-Yes, it's very common in Ashkenaz and Jews

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-Blood tests can be done to check if the body is producing the HEX A enzyme

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-There is no cure for the disease. Gene therapy or enzyme replacement therapy research may eventually lead to a cure or treatment to slow the progression of the disease

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-It is a recessive genetic disorder, when both parents are carriers, there is a 25% risk of giving birth to an affected child with each pregnancy

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Is there a particular chromosome it is located on?

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Is there a particular chromosome it is located on?

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-Yes, this diseases is caused by a gene located on chromosome 15

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How is the disorder inherited? Is it sex linked?

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How is the disorder inherited? Is it sex linked?

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-No
-Tay-sachs disease is an autosomal recessive condition, which means two copies of an abnormal gene must be present in order for the disease to develop.

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Is it a mutation? A genetic tendency triggered by other factors?

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Is it a mutation? A genetic tendency triggered by other factors?

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-There is a mutation in the HEX A that causes the disease. The HEX A enzyme is located in the lysosomes, which are structures in the cell that break down toxic substances. As a result of the mutation, the GM2 accumulates to toxic levels in neurons

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What happens in the body to cause the disease? 

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What happens in the body to cause the disease? 

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-GM2 is supposed to enter the HEX A and when there is a lack of HEX A the GM2 increases, killing the cell and gradually shutting down the central nervous system

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-seizures
-blindness
-deafness
-paralysis
-slow growth
-dementia

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-Brain and spinal cord

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-The body lacks hexosaminidase A (HEX A), a protein that helps break down a group of chemicals found in nerve tissue called gangliosides (GM2). Without HEX A the gangliosides build up, destroying brain cells

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-A rare inherited disorder that causes progressive destruction of nerve cells in the brain and spinal cord

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By: Bre Scott and Callie Carder