Tay-Sachs is a deadly disease present in infants and newborns. The disease is passed on by people from many different descents and regions. There are no known links to an explanation why these descents are known carriers of the gene. The gene is known to not be present within the first 3-6 months, growing and thriving like a healthy child would. A tay sachs kid gets its genes from if both the parents have the tay sachs gene and hand it off to the child. A kid can get the gene passed down to them but not necessarily have the disease. If both the parents carry the gene, then one in four children will actually have the disease. If the parents have four kids, one will have the disease, one will carry it and the other two children will have no remains
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The disease starts off really subtly with the kid having reduced vision. The baby also doesn't seem to outgrow the normal startle response. The National Tay-Sachs Allies Diseases regards the “normal startle response” as, “normal reflex for an infant when he or she is startled or feels like they are falling. The infant will have a "startled" look and the arms will fling out sideways with the palms up and the thumbs flexed.” (NTSAD). If a child does not outgrow this reflex, it is a early sign of a number of problems that will be more noticeable in the future. By two months the child will begin to lose one skill after the other including, not being able to crawl and difficulty swallowing. AS well as loss in motor skills, a child can become sensitive to loud noises. After the kid reaches two years old, they begin to have recurrent seizures and progressively lose muscle and mental function and their sight. An indication of the disease in early infancy is an eye abnormality called a cherry-red …show more content…
This certain enzyme is important because, “it breaks down harmful waste products in the brain and without it these build up and cause extensive damage to the brain’s nerve cells.” Hex-A is an enzyme that is made outside of the cell and then gets absorbed into a cell with GM2 waste. If the enzyme is mutated the cell does not recognize it and does not allow the enzyme to enter the cell and clean the GM2 out. The place the GM2 is is in a storage place in the cell referred to as the lysosomal storage area. To explain further, GM2 is a long, complicated strand that is two big and long for the brain cell to handle. What the Hex-A gene does, is create hexosaminidase which breaks down the GM2 into smaller strands so that the brain cells can handle them. Without the hexosaminidase to break down the Gm2, it causes a buildup of it and eventually kills the cells it occupied. This loss in brain cells, are the reasons the child slowly begins to lose their motor skills and become unresponsive to their
The disease starts off really subtly with the kid having reduced vision. The baby also doesn't seem to outgrow the normal startle response. The National Tay-Sachs Allies Diseases regards the “normal startle response” as, “normal reflex for an infant when he or she is startled or feels like they are falling. The infant will have a "startled" look and the arms will fling out sideways with the palms up and the thumbs flexed.” (NTSAD). If a child does not outgrow this reflex, it is a early sign of a number of problems that will be more noticeable in the future. By two months the child will begin to lose one skill after the other including, not being able to crawl and difficulty swallowing. AS well as loss in motor skills, a child can become sensitive to loud noises. After the kid reaches two years old, they begin to have recurrent seizures and progressively lose muscle and mental function and their sight. An indication of the disease in early infancy is an eye abnormality called a cherry-red …show more content…
This certain enzyme is important because, “it breaks down harmful waste products in the brain and without it these build up and cause extensive damage to the brain’s nerve cells.” Hex-A is an enzyme that is made outside of the cell and then gets absorbed into a cell with GM2 waste. If the enzyme is mutated the cell does not recognize it and does not allow the enzyme to enter the cell and clean the GM2 out. The place the GM2 is is in a storage place in the cell referred to as the lysosomal storage area. To explain further, GM2 is a long, complicated strand that is two big and long for the brain cell to handle. What the Hex-A gene does, is create hexosaminidase which breaks down the GM2 into smaller strands so that the brain cells can handle them. Without the hexosaminidase to break down the Gm2, it causes a buildup of it and eventually kills the cells it occupied. This loss in brain cells, are the reasons the child slowly begins to lose their motor skills and become unresponsive to their