Tay-Sachs disease

Causes

What gene changes cause Tay-Sachs disease?

Tay-Sachs disease is caused by gene changes in the HEXA gene. People have about 20,000-25,000 genes in their bodies. Our genes contain our body's genetic information, called DNA; genes are segments of DNA found on chromosomes. Genes are inherited from our parents and passed on to our children. Genes are like our body's instruction manual - they control the growth, development and normal function of the body. Genes produce specific proteins that the body needs to grow and work properly. When there is an unexpected change in a gene, the protein that the gene produces may be absent or not work properly.

To find a medical professional nearby who can discuss information about gene changes in the HEXA gene and Tay-Sachs disease, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website

References
  • Tay-Sachs disease. Online Mendelian Inheritance in Man (OMIM) website. Accessed September 20, 2016. http://omim.org/entry/272800
  • Tay-Sachs Disease. The National Organization for Rare Disorders website. Accessed September 20, 2016. http://rarediseases.org/rare-diseases/tay-sachs-disease/
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How does the gene change cause symptoms in Tay-Sachs disease?

How does the gene change cause symptoms in Tay-Sachs disease?

Tay-Sachs disease is caused by a change in a gene called HEXA. The HEXA gene produces an enzyme known as beta hexosaminidase A, which is required to break down fatty material called GM2 ganglioside within lysosomes. Lysosomes are the "recycling centers" of the body's cells. Since these fatty materials can't be broken down, they build up in the cells. In Tay-Sachs disease, nerve cells in the brain and spinal cord are particularly affected. As more and more fatty material builds up, it interrupts cell function leading to early cell death and organ damage. In the infantile form of Tay-Sachs disease, there is almost no functional beta hemosaminidase A activity. In the late onset, there is only a reduction in the activity of this enzyme.

References
  • Tay-Sachs disease. Online Mendelian Inheritance in Man (OMIM) website. Accessed September 20, 2016. http://omim.org/entry/272800
  • Tay-Sachs Disease. The National Organization for Rare Disorders website. Accessed September 20, 2016. http://rarediseases.org/rare-diseases/tay-sachs-disease/

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