Tay Sachs Genetic
In today's everyday life many genetic disorders are affecting people's lives. Some of these disorders have been around for years and new ones are being discovered. Even though many of these disorders are common, doctors still don't know what causes some of them. Most of these genetic disorders can affect a person's physical, mental, and social abilities or can even be fatal, like Tay-Sachs Syndrome. Tay-Sachs Syndrome is a rare disorder that is inherited and destroys the cells of the brain and the spinal cord. This disease was discovered by two physicians known as Warren Tay and Bernard Sachs in the 1880's. Tay-Sachs mostly affects infants but it can also occur in childhood, adolescence, and adulthood.
Everyone that is born inherits two sets of genes from their parents. These genes can be dominant or recessive. When you inherit two recessive genes a genetic disorder can happen like Tay-Sachs. Tay-Sachs is a recessive disorder caused by a pair of recessive genes that are passed on by both parents. This means that you can only inherit the disorder if both parents are carriers because there is a 25% chance of inheriting the disease, but you can also inherit the gene from one parent and be a carrier and not have the disease. Also, the other cause of Tay-Sachs disorder is a mutation in the gene called the Hex-A gene. For example, in a normal person an enzyme called the hexosaminidase A (Hex-A) is made in the central nervous system. This enzyme helps breakdown a fatty substance called glangliosides which are found in the brain and are used by the body for the development of brain and nerve cells.
Therefore, when a person has Tay-Sachs the glangliosides are not broken down and they slowly build up in the brain causing damage to the brain and do not allow it to function normally. The absence of this enzyme is due to the mutation in this Hex-A gene.
The most common type of Tay-Sachs occurs in infancy. A baby with the disorder may look normal at birth, but symptoms will develop in the first 3 to 6 months of life. An infant with Tay-Sachs will slowly develop muscle weakness and will not be able to crawl, turnover, or grasp objects. Other symptoms that also appear are a startle reaction to loud noises, seizures, vision and hearing loss, mental retardation, and paralysis that develop as the disease progresses. Also, a red spot in the back of the eye is a characteristic of this disorder. Moreover, the infant can experience changes in their behavior. They become irritable, lose eye contact, and cannot bond with their mothers. Physical deformities will also appear like slow growth, the head will get larger, and their skin will develop a unusual color. An infant with Tay-Sachs will most likely live into early childhood and die at about age 5.
Tay-Sachs occurs in 3 to every 5 births. It can be diagnosed with a physical examination and a blood test which measures the level of Hex-A in an infant. If the level of Hex-A enzyme is low it means the baby has the disorder. Also, an eye test can show if the baby has the disease because you can see the cherry spot in the back of the eye. Pregnant women can also test their unborn baby for the disorder. A sample of the placenta can be taken for testing or a test called an amniocentesis can be done to test the baby for Tay-Sachs. There is no known cure for this disorder but there is treatment. The treatment consists of helping the infant feel more comfortable and cope with the symptoms.
This is done with medications that help control seizures or make the disease less painful. Family support is also provided as the disease progresses.
Tay-Sachs Syndrome is most common in Central and Eastern Ashkenazi Jews. Even though this group of people are at high risk, Tay-Sachs is now affecting other populations like the French-Canadian, Cajun, and the Old Order Amish communities. About 1 out of 27 people in this Jewish group is a carrier but the disease is less frequent now because this group of people are getting screened for the Tay-Sachs trait and going through genetic counseling.
In conclusion, Tay-Sachs is a rare disorder which is inherited and is caused by a mutation in a gene. This disorder affects mostly infants causing severe damage to the brain that leads to death. Only a group of people known as the Ashkenazi Jews have a higher risk for the disease but other populations are also now being affected. Even though there is no known cure there is treatment available and the disease can be prevented through screening and genetic counseling.
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