Tay-Sachs disease

Tay-Sachs disease (also called Tray-Sachs syndrome) is a disease that causes problems with the metabolism of fat. Tay-Sachs is caused by a lack of the enzyme Hexosaminidase A.

Tay-Sachs is a genetic disease. It happens when Chromosome 15 has a genetic problem. The problem is caused by a defective HEXA gene. It is recessive, which means both parents must give the baby the defective gene for the baby to have Tay-Sachs. One in every twenty seven Jewish American has one defective gene and can give Tay-Sachs the defective gene to their child. The disease is very rare. It is most common in Jewish families. There is a blood test to see if a person has the Tay Sachs gene. This blood test has helped reduce the number of babies born with Tay-Sachs. In the 1800’s, there were 60 new cases and in the 21st century there were 5.

Infants with the Tay-Sachs gene from both parents usually die of pneumonia or other infections during their first four years of life. Some symptoms include: lack of energy, loss of vision and motor skills (paralyzation), and seizures. Tay–Sachs disease is usually first noticed in infants around six months old. They show an abnormally strong response to sudden noises or other stimulus. This is called the "startle response". The child may also be listlessness or have muscle stiffness (hypertonia). The disease is classified into several forms, which are based on the age when the neurological symptoms began. There is no known treatment for this disease.

The disease is named after Warren Tay and Bernard Sachs who first described the disease in the late 19th century. After the discovery, he noticed a red spot on the retina of a one year old child. The child was experiencing the same symptoms of the disease. Bernard Sachs was a neurologist from the United States. He was the first person to describe the cellular changes from the disease. In 1969, researchers discovered that Tay-Sachs is caused by a lack of the enzyme Hexosaminidase A.

Tay-Sachs Disease Media

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  Tay–Sachs disease is inherited in an autosomal recessive pattern.

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  The HEXA gene is located on the long (q) arm of human chromosome 15, between positions 23 and 24.

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  Founder effects occur when a small number of individuals from a larger population establish a new population. In this illustration, the original population is on the left with three possible founder populations on the right. Two of the three founder populations are genetically distinct from the original population.